A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3960034



Internal ID19215660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42628690..42629990hg38UCSC Ensembl
Outerchr21:44048800..44050100hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1110383
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3960034
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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