A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526414



Internal ID15453707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:830647..999082hg38UCSC Ensembl
Innerchr17:733887..902322hg19UCSC Ensembl
Innerchr17:680637..849072hg18UCSC Ensembl
Innerchr17:680637..849072hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38168436
hg19168436
hg18168436
hg17168436
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv172n21
Supporting Variantsnssv702714
Samples
Known GenesNXN, TIMM22
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526414
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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