A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520743



Internal ID15448036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:79959272..79966838hg38UCSC Ensembl
Innerchr17:77933071..77940637hg19UCSC Ensembl
Innerchr17:75547666..75555232hg18UCSC Ensembl
Innerchr17:75547666..75555232hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg387567
hg197567
hg187567
hg177567
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv689647, nssv674902, nssv687521
Samples
Known GenesTBC1D16
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520743
Frequency
Sample Size2026
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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