A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596640



Internal ID16037363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:467509..473253hg38UCSC Ensembl
Innerchr5:467624..473368hg19UCSC Ensembl
Innerchr5:520624..526368hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg385745
hg195745
hg185745
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1021166, nssv1021165, nssv1021164, nssv1021167
Samples
Known GenesPP7080, SLC9A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596640
Frequency
Sample Size17421
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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