A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv971812



Internal ID16265768
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
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv591433
Supporting Variants
Samples
Known GenesITGB5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv971812
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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