A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592044



Internal ID16379453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:150762910..150763449hg38UCSC Ensembl
Innerchr3:150480697..150481236hg19UCSC Ensembl
Innerchr3:151963387..151963926hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38540
hg19540
hg18540
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8651n54
Supporting Variantsnssv976759
Samples
Known GenesSIAH2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592044
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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