A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519607



Internal ID15446900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:46984564..47072105hg38UCSC Ensembl
Innerchr22:47380460..47468001hg19UCSC Ensembl
Innerchr22:45759124..45846665hg18UCSC Ensembl
Innerchr22:45700979..45788520hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3887542
hg1987542
hg1887542
hg1787542
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv693192, nssv682496, nssv694076, nssv694991, nssv657053, nssv663377
Samples
Known GenesTBC1D22A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519607
Frequency
Sample Size2026
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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