A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618937



Internal ID15472055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:58612215..58731990hg38UCSC Ensembl
Outerchr16:58646119..58765894hg19UCSC Ensembl
Outerchr16:57203620..57323395hg18UCSC Ensembl
Outerchr16:57203620..57323395hg17UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38119776
hg19119776
hg18119776
hg17119776
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510686
Supporting Variants
SamplesNA10860
Known GenesCNOT1, GOT2, SLC38A7
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)nssv618937
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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