A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522596



Internal ID15103203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:198510..248181hg38UCSC Ensembl
Innerchr11:198510..248181hg19UCSC Ensembl
Innerchr11:188510..238181hg18UCSC Ensembl
Innerchr11:188510..238181hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3849672
hg1949672
hg1849672
hg1749672
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705986
Samples
Known GenesBET1L, MIR6743, ODF3, PSMD13, RIC8A, SIRT3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522596
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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