A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519530



Internal ID15100137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:50356597..50373175hg38UCSC Ensembl
Innerchr17:48433958..48450536hg19UCSC Ensembl
Innerchr17:45788957..45805535hg18UCSC Ensembl
Innerchr17:45788957..45805535hg17UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3816579
hg1916579
hg1816579
hg1716579
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv657074, nssv656702, nssv686494
Samples
Known GenesMRPL27, XYLT2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519530
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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