A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129635



Internal ID18903616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:45414729..45414798hg38UCSC Ensembl
Outerchr2:45641868..45641937hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1903n106
Supporting Variantsnssv3963914
SamplesKWS1
Known GenesSRBD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129635
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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