A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518130



Internal ID15098737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:61379228..61413920hg38UCSC Ensembl
Innerchr17:59456589..59491281hg19UCSC Ensembl
Innerchr17:56811371..56846063hg18UCSC Ensembl
Innerchr17:56811371..56846063hg17UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3834693
hg1934693
hg1834693
hg1734693
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695548
Samples
Known GenesBCAS3, C17orf82, TBX2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518130
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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