A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065751



Internal ID18808282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21967350..22086088hg38UCSC Ensembl
Innerchr22:22321722..22440499hg19UCSC Ensembl
Innerchr22:20651722..20770499hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38118739
hg19118778
hg18118778
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4493n100
Supporting Variantsnssv3588869
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)nsv1065751
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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