A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618134



Internal ID15815939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:4079191..4102258hg38UCSC Ensembl
Outerchr20:4059838..4082905hg19UCSC Ensembl
Outerchr20:4007838..4030905hg18UCSC Ensembl
Outerchr20:4007838..4030905hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg383485
hg193485
hg183485
hg173485
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509759
Supporting Variants
SamplesCHM
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)nssv618134
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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