Table 7 The position of the rearrangement determined by NGS analysis
From: LDLR gene rearrangements in Czech FH patients likely arise from one mutational event
Rearrangement | CNV position determined by NGS analysis | Genome assembly |
|---|---|---|
promoter_exon2del | NC_000019.10:g.(1064802_11089989)_(11099765_11101419)del | GRCh38/hg38 |
exon2_6dup | NC_000019.9:g.(11202240_11211067)_(11217915_11221511)dup | GRCh37/hg19 |
exon3_12del | NC_000019.10:g.(11101200_11113952)_(11118252_11119410)del | GRCh38/hg38 |
exon4_8dup | NC_000019.10:g.11104775_(11112575_11113852)dup | GRCh38/hg38 |
exon5_10del | NC_000019.10:g.11106498_11114129del | GRCh38/hg38 |
exon9_14del | NC_000019.9:g.(11221955_11224202)_(11232040_11233837)del | GRCh37/hg19 |
exon9_15del | NC_000019.10:g.(11112476_11113952)_(11126051_11128869)del | GRCh38/hg38 |
exon16_18dup | NC_000019.9:g.(11236220_11237023)_(11241550_11244171)dup | GRCh37/hg19 |