A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060074



Internal ID18802605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21953147..22225090hg38UCSC Ensembl
Innerchr22:22307519..22579483hg19UCSC Ensembl
Innerchr22:20637519..20909483hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38271944
hg19271965
hg18271965
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4497n100
Supporting Variantsnssv3588844, nssv3588843, nssv3588846, nssv3588845
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)nsv1060074
Frequency
Sample Size29084
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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