A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4518



Internal ID15539245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:4308493..4342139hg38UCSC Ensembl
Outerchr20:4289140..4322786hg19UCSC Ensembl
Outerchr20:4237140..4270786hg18UCSC Ensembl
Outerchr20:4237140..4270786hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg386090
hg196090
hg186090
hg176090
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3266
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv4518
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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