A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv687997



Internal ID15077963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248694378..248705477hg38UCSC Ensembl
Innerchr1:248857679..248868778hg19UCSC Ensembl
Innerchr1:246924302..246935401hg18UCSC Ensembl
Innerchr1:245183720..245194816hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3811100
hg1911100
hg1811100
hg1711097
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515858
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv687997
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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