A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv910721



Internal ID15857991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:54667512..54772575hg38UCSC Ensembl
Innerchr2:54894649..54999712hg19UCSC Ensembl
Innerchr2:54748153..54853216hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38105064
hg19105064
hg18105064
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv582024
Supporting Variants
Samples
Known GenesEML6, SPTBN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv910721
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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