A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv437177



Internal ID15035909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:31453177..31453763hg38UCSC Ensembl
Outerchr18:31449805..31459320hg38UCSC Ensembl
Innerchr18:29033140..29033726hg19UCSC Ensembl
Outerchr18:29029768..29039283hg19UCSC Ensembl
Innerchr18:27287138..27287724hg18UCSC Ensembl
Outerchr18:27283766..27293281hg18UCSC Ensembl
Innerchr18:27285127..27285713hg16UCSC Ensembl
Outerchr18:27281755..27291270hg16UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg389516
hg199516
hg189516
hg169516
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv467058
SamplesNA10855
Known GenesDSG3
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)nsv437177
Frequency
Sample Size60
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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