A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696534



Internal ID15433186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:43123227..43141060hg38UCSC Ensembl
Innerchr1:43588898..43606731hg19UCSC Ensembl
Innerchr1:43361485..43379318hg18UCSC Ensembl
Innerchr1:43257991..43275824hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3817834
hg1917834
hg1817834
hg1717834
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519062
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696534
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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