A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv437752

Internal ID15036484
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:48330995..48340826hg38UCSC Ensembl
Outerchr12:48328049..48347436hg38UCSC Ensembl
Innerchr12:48724778..48734609hg19UCSC Ensembl
Outerchr12:48721832..48741219hg19UCSC Ensembl
Innerchr12:47011045..47020876hg18UCSC Ensembl
Outerchr12:47008099..47027486hg18UCSC Ensembl
Innerchr12:47011045..47020876hg16UCSC Ensembl
Outerchr12:47008099..47027486hg16UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv467633
Known GenesH1FNT, ZNF641
MethodSNP array
AnalysisOur algorithm aims to detect deletions that are transmitted from a hemizygous parent to a child. For each trio, every SNP was coded into one of seven categories: (A) Type I mendelian incompatibility (that is, consistent with deletion) involving mother; (B) Type I mendelian incompatibility involving father; (C) Type II mendelian incompatibility (that is, inconsistent with deletion); (D) child homozygous or missing data, both parents homozygous or missing data; (E) child homozygous or missing data, father heterozygous, mother homozygous or missing data; (F) child homozygous or missing data, mother heterozygous, father homozygous or missing data; (G) child heterozygous or both parents heterozygous (see Supplementary Methods for further details). SNPs were assigned to states D-G only if they did not contain mendelian incompatibilities. A run of consecutive SNPs in a particular trio was considered to be consistent with a maternal transmitted deletion if all SNPs were in states A, D or E, or with a paternal deletion if all SNPs were in states B, D or F.
PlatformNot reported
Pubmed ID16327808
Accession Number(s)nsv437752
Sample Size60
Observed Gain0
Observed Loss1
Observed Complex0

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