A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000793



Internal ID17293745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:32198214..32213613hg38UCSC Ensembl
Outerchr22:32594201..32609600hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3815400
hg1915400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953071
Supporting Variants
SamplesBILGI_BIOE
Known GenesRFPL2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000793
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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