A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3983960



Internal ID18889557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:19212588..19212666hg38UCSC Ensembl
Outerchr22:19200097..19200175hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125751
Supporting Variants
SamplesKWS2
Known GenesCLTCL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3983960
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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