A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517489



Internal ID15098096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:2344688..2395680hg38UCSC Ensembl
Innerchr17:2247982..2298974hg19UCSC Ensembl
Innerchr17:2194732..2245724hg18UCSC Ensembl
Innerchr17:2194732..2245724hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3850993
hg1950993
hg1850993
hg1750993
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv652171, nssv674090, nssv696223
Samples
Known GenesMNT, SGSM2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517489
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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