A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv691218



Internal ID15081184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:45881643..45948533hg38UCSC Ensembl
Innerchr11:45903194..45970084hg19UCSC Ensembl
Innerchr11:45859770..45926660hg18UCSC Ensembl
Innerchr11:45859770..45926660hg17UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3866891
hg1966891
hg1866891
hg1766891
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516442
Supporting Variants
Samples
Known GenesC11orf94, CRY2, GYLTL1B, MAPK8IP1, PEX16, PHF21A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv691218
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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