A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv934091



Internal ID16228047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240921494..240924750hg38UCSC Ensembl
Innerchr2:241860911..241864167hg19UCSC Ensembl
Innerchr2:241509584..241512840hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg383257
hg193257
hg183257
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584890
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv934091
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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