A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065460



Internal ID18807991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21960940..22219583hg38UCSC Ensembl
Innerchr22:22315312..22573975hg19UCSC Ensembl
Innerchr22:20645312..20903975hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38258644
hg19258664
hg18258664
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4497n100
Supporting Variantsnssv3588867, nssv3588866, nssv3588865
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)nsv1065460
Frequency
Sample Size29084
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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