A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999189



Internal ID19189956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:48320349..48320499hg38UCSC Ensembl
Outerchr22:48716161..48716311hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152009
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999189
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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