A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598163



Internal ID16038886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:52462970..53037590hg38UCSC Ensembl
Innerchr5:51758804..52333420hg19UCSC Ensembl
Innerchr5:51794561..52369177hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38574621
hg19574617
hg18574617
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153936
SamplesHGDP00865
Known GenesITGA1, ITGA2, PELO
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598163
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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