A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999318



Internal ID18843235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17658929..17661865hg38UCSC Ensembl
Outerchr22:18141695..18144631hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg382937
hg192937
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146118
Supporting Variants
SamplesKWB1
Known GenesBCL2L13
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999318
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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