A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3962502



Internal ID19218221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:40563786..40563862hg38UCSC Ensembl
Outerchr21:41935713..41935789hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1111228
Supporting Variants
SamplesKWS1
Known GenesDSCAM
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3962502
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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