A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621128



Internal ID15820478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:48502349..48536537hg38UCSC Ensembl
Outerchr20:47130595..47153075hg19UCSC Ensembl
Outerchr20:46564002..46586482hg18UCSC Ensembl
Outerchr20:46564002..46586482hg17UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3810802
hg1910802
hg1810802
hg1710802
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv509774
Supporting Variants
SamplesNA15510
Known Genes
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)nssv621128
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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