A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv552765



Internal ID15993488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:199256..320836hg38UCSC Ensembl
Innerchr11:199256..320836hg19UCSC Ensembl
Innerchr11:189256..310836hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38121581
hg19121581
hg18121581
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv763048
Samples
Known GenesATHL1, BET1L, IFITM1, IFITM2, IFITM3, IFITM5, MIR6743, NLRP6, ODF3, PSMD13, RIC8A, SIRT3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv552765
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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