A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591444



Internal ID16378853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:124886674..124887583hg38UCSC Ensembl
Innerchr3:124605521..124606430hg19UCSC Ensembl
Innerchr3:126088211..126089120hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38910
hg19910
hg18910
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8534n54
Supporting Variantsnssv971858, nssv971861, nssv971863, nssv971859, nssv971862, nssv971860
Samples
Known GenesITGB5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591444
Frequency
Sample Size17421
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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