A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510513



Internal ID15478011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:29514811..29520811hg38UCSC Ensembl
Outerchr22:29910800..29916800hg19UCSC Ensembl
Outerchr22:28240800..28246800hg18UCSC Ensembl
Outerchr22:28235354..28241354hg17UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621511, nssv624259
SamplesNA18994, NA15510
Known GenesTHOC5
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)nsv510513
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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