A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592043



Internal ID16379452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:150762910..150763398hg38UCSC Ensembl
Innerchr3:150480697..150481185hg19UCSC Ensembl
Innerchr3:151963387..151963875hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38489
hg19489
hg18489
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv976758, nssv976757
Samples
Known GenesSIAH2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592043
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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