A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598816



Internal ID16386225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:84722520..84817037hg38UCSC Ensembl
Innerchr5:84018338..84112855hg19UCSC Ensembl
Innerchr5:84054094..84148611hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3894518
hg1994518
hg1894518
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9914n54
Supporting Variantsnssv1153954, nssv1153953
SamplesHGDP00001, HGDP00007
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598816
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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