A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7946n54



Internal ID22775841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:16532045..16823997hg38UCSC Ensembl
chr22:17012935..17304887hg19UCSC Ensembl
chr22:15392935..15684887hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38291953
hg19291953
hg18291953
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv588072, nsv588070, nsv588074, nsv588073, nsv588075
SamplesNINDS_39, NINDS_35, 1780862579_A, NINDS_65, HGDP00587, NINDS_66
Known GenesANKRD62P1-PARP4P3, CCT8L2, TPTEP1, XKR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7946n54
Frequency
Sample Size17421
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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