A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv682496



Internal ID15419148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:46995414..47072105hg38UCSC Ensembl
Innerchr22:47391310..47468001hg19UCSC Ensembl
Innerchr22:45769974..45846665hg18UCSC Ensembl
Innerchr22:45711829..45788520hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3876692
hg1976692
hg1876692
hg1776692
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519607
Supporting Variants
Samples
Known GenesTBC1D22A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv682496
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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