A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000827



Internal ID17293779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:47122005..47178247hg38UCSC Ensembl
Outerchr22:47517901..47574000hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3856243
hg1956100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv955181
Supporting Variants
SamplesBILGI_BIOE
Known GenesTBC1D22A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000827
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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