A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516244



Internal ID15443537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176520050..176537482hg38UCSC Ensembl
Innerchr5:175947051..175964483hg19UCSC Ensembl
Innerchr5:175879657..175897089hg18UCSC Ensembl
Innerchr5:175879657..175897089hg17UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3817433
hg1917433
hg1817433
hg1717433
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv669978, nssv678249, nssv698107, nssv663587, nssv696947, nssv669812, nssv657510, nssv674179, nssv667295, nssv667007
Samples
Known GenesRNF44
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516244
Frequency
Sample Size2026
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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