A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525469



Internal ID15106076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:49704315..49720153hg38UCSC Ensembl
Innerchr17:47781677..47797515hg19UCSC Ensembl
Innerchr17:45136676..45152514hg18UCSC Ensembl
Innerchr17:45136676..45152514hg17UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3815839
hg1915839
hg1815839
hg1715839
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701597
Samples
Known GenesFAM117A, SLC35B1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525469
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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