A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591401



Internal ID16378810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:121375745..121441522hg38UCSC Ensembl
Innerchr3:121094592..121160369hg19UCSC Ensembl
Innerchr3:122577282..122643059hg18UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg3865778
hg1965778
hg1865778
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv971766
Samples
Known GenesPOLQ, STXBP5L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591401
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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