A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv437047

Internal ID15035721
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:147223330..147363636hg38UCSC Ensembl
Outerchr1:147171976..147369886hg38UCSC Ensembl
Innerchr1:146694922..146835350hg19UCSC Ensembl
Outerchr1:146643555..146841602hg19UCSC Ensembl
Innerchr1:145161546..145301974hg18UCSC Ensembl
Outerchr1:145110179..145308226hg18UCSC Ensembl
Innerchr1:144201999..144342427hg16UCSC Ensembl
Outerchr1:144150632..144348679hg16UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv466928
Known GenesCHD1L, FMO5, PDIA3P1, PRKAB2
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)nsv437047
Sample Size60
Observed Gain0
Observed Loss1
Observed Complex0

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