A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv507867



Internal ID15479546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:31561465..31567465hg38UCSC Ensembl
Outerchr18:29141428..29147428hg19UCSC Ensembl
Outerchr18:27395426..27401426hg18UCSC Ensembl
Outerchr18:27395426..27401426hg17UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623242, nssv620628
SamplesNA15510, NA18994
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)nsv507867
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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