A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516065



Internal ID15096672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:38491301..38542187hg38UCSC Ensembl
Innerchr5:38491403..38542289hg19UCSC Ensembl
Innerchr5:38527160..38578046hg18UCSC Ensembl
Innerchr5:38527160..38578046hg17UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3850887
hg1950887
hg1850887
hg1750887
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv661000, nssv665957, nssv694879, nssv674033
Samples
Known GenesLIFR
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516065
Frequency
Sample Size2026
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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