A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv658330



Internal ID15394982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:85793..262553hg38UCSC Ensembl
Innerchr2:85793..262553hg19UCSC Ensembl
Innerchr2:75793..252553hg18UCSC Ensembl
Innerchr2:75793..252553hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38176761
hg19176761
hg18176761
hg17176761
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519763
Supporting Variants
Samples
Known GenesSH3YL1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv658330
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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