A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv678514



Internal ID15415166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16437596..16820327hg38UCSC Ensembl
Innerchr22:16918335..17301217hg19UCSC Ensembl
Innerchr22:15298335..15681217hg18UCSC Ensembl
Innerchr22:15292889..15675771hg17UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38382732
hg19382883
hg18382883
hg17382883
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517059
Supporting Variants
Samples
Known GenesANKRD62P1-PARP4P3, CCT8L2, TPTEP1, XKR3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv678514
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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