A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694018



Internal ID15083984
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
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520596
Supporting Variants
Samples
Known GenesBCHE
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694018
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer