A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515802



Internal ID15442859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:47114025..47177505hg38UCSC Ensembl
Innerchr22:47509921..47573257hg19UCSC Ensembl
Innerchr22:45888585..45951921hg18UCSC Ensembl
Innerchr22:45830440..45893776hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3863481
hg1963337
hg1863337
hg1763337
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv674754, nssv674539, nssv699619, nssv677773, nssv657054, nssv695586, nssv664826, nssv705814, nssv695157
Samples
Known GenesTBC1D22A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515802
Frequency
Sample Size2026
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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