A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993776



Internal ID18884074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:45414729..45414787hg38UCSC Ensembl
Outerchr2:45641868..45641926hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142274
Supporting Variants
SamplesKWS2
Known GenesSRBD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993776
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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