A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509770



Internal ID15825796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:43997425..44027136hg38UCSC Ensembl
Outerchr20:42626065..42655776hg19UCSC Ensembl
Outerchr20:42059479..42089190hg18UCSC Ensembl
Outerchr20:42059479..42089190hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg383044
hg193044
hg183044
hg173044
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621124
SamplesNA15510
Known GenesTOX2
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)nsv509770
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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