A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599921



Internal ID16387330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141333930..141343607hg38UCSC Ensembl
Innerchr5:140713497..140723174hg19UCSC Ensembl
Innerchr5:140693681..140703358hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg389678
hg199678
hg189678
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1042425
Samples
Known GenesPCDHGA1, PCDHGA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599921
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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