A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619081



Internal ID15818885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:79222982..79228982hg38UCSC Ensembl
Outerchr12:79616762..79622762hg19UCSC Ensembl
Outerchr12:78140893..78146893hg18UCSC Ensembl
Outerchr12:78119230..78125230hg17UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv507658
Supporting Variants
SamplesNA10860
Known GenesSYT1
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)nssv619081
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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