A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv680499



Internal ID15070465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247698214..248122139hg38UCSC Ensembl
Innerchr1:247861516..248285441hg19UCSC Ensembl
Innerchr1:245928139..246352064hg18UCSC Ensembl
Innerchr1:244187557..244611482hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38423926
hg19423926
hg18423926
hg17423926
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515858
Supporting Variants
Samples
Known GenesOR11L1, OR14A16, OR1C1, OR2AK2, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, OR2M1P, OR2T8, OR2W3, OR6F1, TRIM58
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv680499
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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