A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598170



Internal ID16385579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:53077866..53081086hg38UCSC Ensembl
Innerchr5:52373696..52376916hg19UCSC Ensembl
Innerchr5:52409453..52412673hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg383221
hg193221
hg183221
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1030356
Samples
Known GenesITGA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598170
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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