A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591275



Internal ID16031998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:110918624..111782250hg38UCSC Ensembl
Innerchr3:110637471..111501097hg19UCSC Ensembl
Innerchr3:112120161..112983787hg18UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg38863627
hg19863627
hg18863627
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152526
SamplesHGDP00025
Known GenesCD96, PHLDB2, PLCXD2, PVRL3, PVRL3-AS1, ZBED2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591275
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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