A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065344



Internal ID18807875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21977669..22199929hg38UCSC Ensembl
Innerchr22:22332041..22554330hg19UCSC Ensembl
Innerchr22:20662041..20884330hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38222261
hg19222290
hg18222290
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4496n100
Supporting Variantsnssv3588879
Samples
Known GenesTOP3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065344
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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