A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv507852



Internal ID15823882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:63544431..63550431hg38UCSC Ensembl
Outerchr17:61621792..61627792hg19UCSC Ensembl
Outerchr17:58975524..58981524hg18UCSC Ensembl
Outerchr17:58975524..58981524hg17UCSC Ensembl
Cytoband17q23.3
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 Variantsnssv619189, nssv617926, nssv620619, nssv623231
SamplesCHM, NA15510, NA18994, NA10860
Known GenesKCNH6
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)nsv507852
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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