A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622218



Internal ID15817443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:97681144..97687144hg38UCSC Ensembl
Outerchr12:98074922..98080922hg19UCSC Ensembl
Outerchr12:96599053..96605053hg18UCSC Ensembl
Outerchr12:96577390..96583390hg17UCSC Ensembl
Cytoband12q23.1
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 Variantsnsv510313
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)nssv622218
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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