A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621129



Internal ID15473793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:49411021..49487816hg38UCSC Ensembl
Outerchr20:48027558..48104353hg19UCSC Ensembl
Outerchr20:47460965..47537760hg18UCSC Ensembl
Outerchr20:47460965..47537760hg17UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg384474
hg194474
hg184474
hg174474
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509775
Supporting Variants
SamplesNA15510
Known GenesKCNB1
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nssv621129
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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