A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv684831



Internal ID15421483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:20614823..20645513hg38UCSC Ensembl
Innerchr2:20814583..20845273hg19UCSC Ensembl
Innerchr2:20678064..20708754hg18UCSC Ensembl
Innerchr2:20736211..20766901hg17UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3830691
hg1930691
hg1830691
hg1730691
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517472
Supporting Variants
Samples
Known GenesHS1BP3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv684831
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