A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066664



Internal ID18809195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21977088..22219583hg38UCSC Ensembl
Innerchr22:22331460..22573975hg19UCSC Ensembl
Innerchr22:20661460..20903975hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38242496
hg19242516
hg18242516
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4494n100
Supporting Variantsnssv3588874, nssv3588875, nssv3588877, nssv3588876
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)nsv1066664
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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