A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993833



Internal ID18887326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:40620032..40620269hg38UCSC Ensembl
Outerchr21:41991958..41992195hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142331
Supporting Variants
SamplesKWS2
Known GenesDSCAM, DSCAM-IT1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993833
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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