A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061240



Internal ID18803771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:43019575..43120127hg38UCSC Ensembl
Innerchr22:43415581..43516133hg19UCSC Ensembl
Innerchr22:41745525..41846077hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38100553
hg19100553
hg18100553
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3592237
Samples
Known GenesBIK, TTLL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061240
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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