A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv685956



Internal ID15075922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247686171..248114336hg38UCSC Ensembl
Innerchr1:247849473..248277638hg19UCSC Ensembl
Innerchr1:245916096..246344261hg18UCSC Ensembl
Innerchr1:244175514..244603679hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38428166
hg19428166
hg18428166
hg17428166
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, OR2T8, OR2W3, OR6F1, TRIM58
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv685956
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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