A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv507364



Internal ID15823016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:133952946..133958946hg38UCSC Ensembl
Outerchr6:134274084..134280084hg19UCSC Ensembl
Outerchr6:134315777..134321777hg18UCSC Ensembl
Outerchr6:134315777..134321777hg17UCSC Ensembl
Cytoband6q23.2
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 Variantsnssv617724
SamplesCHM
Known GenesTBPL1
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)nsv507364
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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