A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696690



Internal ID15086656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:162374312..162397864hg38UCSC Ensembl
Innerchr1:162344102..162367654hg19UCSC Ensembl
Innerchr1:160610726..160634278hg18UCSC Ensembl
Innerchr1:159075760..159099312hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3823553
hg1923553
hg1823553
hg1723553
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516482
Supporting Variants
Samples
Known GenesC1orf111, C1orf226, SH2D1B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696690
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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