A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993843



Internal ID19242108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:35463490..35463745hg38UCSC Ensembl
Outerchr22:35859483..35859738hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125756
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993843
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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