A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618093



Internal ID15817248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:61050062..61074938hg38UCSC Ensembl
Outerchr12:61443843..61468719hg19UCSC Ensembl
Outerchr12:59730110..59754986hg18UCSC Ensembl
Outerchr12:59730110..59754986hg17UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg384515
hg194515
hg184515
hg174515
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509471
Supporting Variants
SamplesCHM
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)nssv618093
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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