A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509760



Internal ID15825786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:4395525..4448858hg38UCSC Ensembl
Outerchr20:4376172..4429505hg19UCSC Ensembl
Outerchr20:4324172..4377505hg18UCSC Ensembl
Outerchr20:4324172..4377505hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg383363
hg193363
hg183363
hg173363
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619840, nssv623821
SamplesNA18994, NA10860
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)nsv509760
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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