A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591354



Internal ID16378763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:119010267..119098548hg38UCSC Ensembl
Innerchr3:118729114..118817395hg19UCSC Ensembl
Innerchr3:120211804..120300085hg18UCSC Ensembl
Cytoband3q13.32
Allele length
AssemblyAllele length
hg3888282
hg1988282
hg1888282
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8517n54
Supporting Variantsnssv971653, nssv971652, nssv971654, nssv971650, nssv971651
Samples
Known GenesIGSF11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591354
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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