A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv568921



Internal ID16009644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:33754434..33955421hg38UCSC Ensembl
Innerchr15:34046635..34247622hg19UCSC Ensembl
Innerchr15:31833927..32034914hg18UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38200988
hg19200988
hg18200988
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv839798
Samples
Known GenesAVEN, RYR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv568921
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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