A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592660



Internal ID16380069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:183824938..183825502hg38UCSC Ensembl
Innerchr3:183542726..183543290hg19UCSC Ensembl
Innerchr3:185025420..185025984hg18UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38565
hg19565
hg18565
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv982555, nssv982554
Samples
Known GenesMAP6D1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592660
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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