A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509761



Internal ID15825787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:5686226..5750161hg38UCSC Ensembl
Outerchr20:5666872..5730807hg19UCSC Ensembl
Outerchr20:5614872..5678807hg18UCSC Ensembl
Outerchr20:5614872..5678807hg17UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg384223
hg194223
hg184223
hg174223
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619841
SamplesNA10860
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)nsv509761
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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