A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591452



Internal ID16378861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:124886867..124887513hg38UCSC Ensembl
Innerchr3:124605714..124606360hg19UCSC Ensembl
Innerchr3:126088404..126089050hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38647
hg19647
hg18647
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8538n54
Supporting Variantsnssv971882, nssv971881
Samples
Known GenesITGB5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591452
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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