A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133293



Internal ID19250722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:12558504..12562945hg38UCSC Ensembl
Outerchr20:12539151..12543592hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg384442
hg194442
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3988206
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133293
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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