A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv507818



Internal ID15479497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:55405180..55411180hg38UCSC Ensembl
Outerchr16:55439092..55445092hg19UCSC Ensembl
Outerchr16:53996593..54002593hg18UCSC Ensembl
Outerchr16:53996593..54002593hg17UCSC Ensembl
Cytoband16q12.2
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 Variantsnssv620606, nssv619169
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)nsv507818
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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