A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592042



Internal ID16379451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:150762859..150763449hg38UCSC Ensembl
Innerchr3:150480646..150481236hg19UCSC Ensembl
Innerchr3:151963336..151963926hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38591
hg19591
hg18591
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8651n54
Supporting Variantsnssv976755, nssv976756
Samples
Known GenesSIAH2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592042
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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