A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064589



Internal ID18807120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16384224..16606815hg38UCSC Ensembl
Innerchr22:16864886..17087705hg19UCSC Ensembl
Innerchr22:15244886..15467705hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38222592
hg19222820
hg18222820
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4458n100
Supporting Variantsnssv3589278
Samples
Known GenesCCT8L2, TPTEP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064589
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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