A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509708



Internal ID15825734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79598656..79671483hg38UCSC Ensembl
Outerchr18:77358656..77431483hg19UCSC Ensembl
Outerchr18:75459644..75532471hg18UCSC Ensembl
Outerchr18:75459644..75532471hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3816659
hg1916659
hg1816659
hg1716659
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621057, nssv619736
SamplesNA15510, 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)nsv509708
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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