A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv675536



Internal ID15065502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247686171..248705477hg38UCSC Ensembl
Innerchr1:247849473..248868778hg19UCSC Ensembl
Innerchr1:245916096..246935401hg18UCSC Ensembl
Innerchr1:244175514..245194816hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381019307
hg191019306
hg181019306
hg171019303
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515858
Supporting Variants
Samples
Known GenesOR11L1, OR14A16, OR14C36, OR14I1, OR1C1, OR2AK2, OR2G6, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, OR2M1P, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, OR2T8, OR2W3, OR6F1, TRIM58
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv675536
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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