A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596682



Internal ID16037405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:472511..474507hg38UCSC Ensembl
Innerchr5:472626..474622hg19UCSC Ensembl
Innerchr5:525626..527622hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381997
hg191997
hg181997
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9488n54
Supporting Variantsnssv1021240
Samples
Known GenesPP7080, SLC9A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596682
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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