A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694509



Internal ID15431161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:160238492..160294665hg38UCSC Ensembl
Innerchr5:159665499..159721672hg19UCSC Ensembl
Innerchr5:159598077..159654250hg18UCSC Ensembl
Innerchr5:159598077..159654250hg17UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3856174
hg1956174
hg1856174
hg1756174
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521745
Supporting Variants
Samples
Known GenesCCNJL, FABP6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694509
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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