A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527637



Internal ID15454930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16437596..16981295hg38UCSC Ensembl
Innerchr22:16918335..17462185hg19UCSC Ensembl
Innerchr22:15298335..15842185hg18UCSC Ensembl
Innerchr22:15292889..15836739hg17UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38543700
hg19543851
hg18543851
hg17543851
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704106
Samples
Known GenesANKRD62P1-PARP4P3, CCT8L2, GAB4, HSFY1P1, TPTEP1, XKR3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527637
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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