A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520596



Internal ID15101203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:165787389..166149690hg38UCSC Ensembl
Innerchr3:165505177..165867478hg19UCSC Ensembl
Innerchr3:166987871..167350172hg18UCSC Ensembl
Innerchr3:166987879..167350180hg17UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg38362302
hg19362302
hg18362302
hg17362302
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694018, nssv672965, nssv694618
Samples
Known GenesBCHE
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520596
Frequency
Sample Size2026
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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