A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3969647



Internal ID18876556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17643774..17647134hg38UCSC Ensembl
Outerchr22:18126540..18129900hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg383361
hg193361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1122204
Supporting Variants
SamplesKWS1
Known GenesBCL2L13
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3969647
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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