A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv689757



Internal ID15426409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:18505299..18506268hg38UCSC Ensembl
Innerchr2:18686565..18687534hg19UCSC Ensembl
Innerchr2:18550046..18551015hg18UCSC Ensembl
Innerchr2:18608193..18609162hg17UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg38970
hg19970
hg18970
hg17970
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520890
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv689757
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