A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591433



Internal ID16378842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:124886607..124887249hg38UCSC Ensembl
Innerchr3:124605454..124606096hg19UCSC Ensembl
Innerchr3:126088144..126088786hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38643
hg19643
hg18643
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8533n54
Supporting Variantsnssv971813, nssv971812
Samples
Known GenesITGB5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591433
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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