A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591454



Internal ID16378863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:124886885..124887513hg38UCSC Ensembl
Innerchr3:124605732..124606360hg19UCSC Ensembl
Innerchr3:126088422..126089050hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38629
hg19629
hg18629
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8538n54
Supporting Variantsnssv971885
Samples
Known GenesITGB5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591454
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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