A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv437331



Internal ID15036063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:62682654..62708567hg38UCSC Ensembl
Outerchr3:62672476..62713525hg38UCSC Ensembl
Innerchr3:62668329..62694242hg19UCSC Ensembl
Outerchr3:62658151..62699200hg19UCSC Ensembl
Innerchr3:62643369..62669282hg18UCSC Ensembl
Outerchr3:62633191..62674240hg18UCSC Ensembl
Innerchr3:62625667..62651580hg16UCSC Ensembl
Outerchr3:62615489..62656538hg16UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3841050
hg1941050
hg1841050
hg1641050
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv467212
SamplesNA18503
Known GenesCADPS
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
Comments
ReferenceConrad_et_al_2006
Pubmed ID16327808
Accession Number(s)nsv437331
Frequency
Sample Size60
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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