A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591508



Internal ID16378917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:126475233..126476609hg38UCSC Ensembl
Innerchr3:126194076..126195452hg19UCSC Ensembl
Innerchr3:127676766..127678142hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg381377
hg191377
hg181377
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv972416, nssv972417
Samples
Known GenesZXDC
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591508
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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