A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518475



Internal ID15099082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:75567216..76115979hg38UCSC Ensembl
Innerchr5:74863041..75411804hg19UCSC Ensembl
Innerchr5:74898797..75447560hg18UCSC Ensembl
Innerchr5:74898797..75447560hg17UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38548764
hg19548764
hg18548764
hg17548764
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695911
Samples
Known GenesANKDD1B, POC5, POLK, SV2C
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518475
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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