A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596919



Internal ID16384328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:2903193..3310425hg38UCSC Ensembl
Innerchr5:2903307..3310539hg19UCSC Ensembl
Innerchr5:2956307..3363539hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38407233
hg19407233
hg18407233
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1023677
Samples
Known GenesLOC102467074
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596919
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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