A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517059



Internal ID15444352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16437596..16820953hg38UCSC Ensembl
Innerchr22:16918335..17301843hg19UCSC Ensembl
Innerchr22:15298335..15681843hg18UCSC Ensembl
Innerchr22:15292889..15676397hg17UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38383358
hg19383509
hg18383509
hg17383509
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703690, nssv678514, nssv682236, nssv692451, nssv656148, nssv701301, nssv688206, nssv661124, nssv690368, nssv702550, nssv689488, nssv666735, nssv684478, nssv699684, nssv653704, nssv693834, nssv671919, nssv670588
Samples
Known GenesANKRD62P1-PARP4P3, CCT8L2, TPTEP1, XKR3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517059
Frequency
Sample Size2026
Observed Gain16
Observed Loss2
Observed Complex0
Frequencyn/a


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