A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv674816



Internal ID15064782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:56678313..56739993hg38UCSC Ensembl
Innerchr1:57143986..57205666hg19UCSC Ensembl
Innerchr1:56916574..56978254hg18UCSC Ensembl
Innerchr1:56856007..56917687hg17UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg3861681
hg1961681
hg1861681
hg1761681
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520726
Supporting Variants
Samples
Known GenesC1orf168, PRKAA2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv674816
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