A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517972



Internal ID15445265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172914914..172942766hg38UCSC Ensembl
Innerchr5:172341917..172369769hg19UCSC Ensembl
Innerchr5:172274523..172302375hg18UCSC Ensembl
Innerchr5:172274523..172302375hg17UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3827853
hg1927853
hg1827853
hg1727853
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695384
Samples
Known GenesERGIC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517972
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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