A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv617837



Internal ID15816992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:79223486..79229486hg38UCSC Ensembl
Outerchr12:79617266..79623266hg19UCSC Ensembl
Outerchr12:78141397..78147397hg18UCSC Ensembl
Outerchr12:78119734..78125734hg17UCSC 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
SamplesCHM
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)nssv617837
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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