A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591445



Internal ID16378854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:124886684..124887358hg38UCSC Ensembl
Innerchr3:124605531..124606205hg19UCSC Ensembl
Innerchr3:126088221..126088895hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38675
hg19675
hg18675
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8535n54
Supporting Variantsnssv971864
Samples
Known GenesITGB5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591445
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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