A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591440



Internal ID16378849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:124886607..124891391hg38UCSC Ensembl
Innerchr3:124605454..124610238hg19UCSC Ensembl
Innerchr3:126088144..126092928hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg384785
hg194785
hg184785
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv971853
Samples
Known GenesITGB5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591440
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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