A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv904611



Internal ID15851881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:30147263..30147919hg38UCSC Ensembl
Innerchr2:30370129..30370785hg19UCSC Ensembl
Innerchr2:30223633..30224289hg18UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg38657
hg19657
hg18657
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv581257
Supporting Variants
Samples
Known GenesYPEL5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv904611
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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