A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518457



Internal ID15445750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:816212..1006413hg38UCSC Ensembl
Innerchr17:719452..909653hg19UCSC Ensembl
Innerchr17:666202..856403hg18UCSC Ensembl
Innerchr17:666202..856403hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38190202
hg19190202
hg18190202
hg17190202
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv172n21
Supporting Variantsnssv695893
Samples
Known GenesABR, NXN, TIMM22
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518457
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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