A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622397



Internal ID15817622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:60115842..60154856hg38UCSC Ensembl
Outerchr12:60509623..60548637hg19UCSC Ensembl
Outerchr12:58795890..58834904hg18UCSC Ensembl
Outerchr12:58795890..58834904hg17UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3839015
hg1939015
hg1839015
hg1739015
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511019
Supporting Variants
SamplesNA10860
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)nssv622397
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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