A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518292



Internal ID15098899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:74810882..74982818hg38UCSC Ensembl
Innerchr17:72807021..72978913hg19UCSC Ensembl
Innerchr17:70318616..70490508hg18UCSC Ensembl
Innerchr17:70318616..70490508hg17UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38171937
hg19171893
hg18171893
hg17171893
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695723
Samples
Known GenesFADS6, FDXR, GRIN2C, HID1, OTOP2, OTOP3, TMEM104, USH1G
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518292
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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