A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517000



Internal ID15444293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:120961092..121117161hg38UCSC Ensembl
Innerchr5:120296787..120452856hg19UCSC Ensembl
Innerchr5:120324686..120480755hg18UCSC Ensembl
Innerchr5:120324686..120480755hg17UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38156070
hg19156070
hg18156070
hg17156070
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv651954, nssv666290, nssv655870, nssv654264, nssv674808, nssv674259, nssv651915, nssv661915, nssv653928, nssv671179, nssv663586, nssv657084, nssv665024, nssv663404, nssv683497, nssv667828, nssv672936, nssv693702, nssv678795, nssv663010, nssv653583, nssv661306
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517000
Frequency
Sample Size2026
Observed Gain12
Observed Loss10
Observed Complex0
Frequencyn/a


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