A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696482



Internal ID15433134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:194798855..194863360hg38UCSC Ensembl
Innerchr1:194767985..194832490hg19UCSC Ensembl
Innerchr1:193034608..193099113hg18UCSC Ensembl
Innerchr1:191499642..191564147hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3864506
hg1964506
hg1864506
hg1764506
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519014
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696482
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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