A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591448



Internal ID16378857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:124886813..124887461hg38UCSC Ensembl
Innerchr3:124605660..124606308hg19UCSC Ensembl
Innerchr3:126088350..126088998hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38649
hg19649
hg18649
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8538n54
Supporting Variantsnssv971868, nssv971869
Samples
Known GenesITGB5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591448
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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