A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511059



Internal ID15478553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:67713515..67872298hg38UCSC Ensembl
Outerchr17:65709631..65868414hg19UCSC Ensembl
Outerchr17:63140093..63298876hg18UCSC Ensembl
Outerchr17:63140093..63298876hg17UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38158784
hg19158784
hg18158784
hg17158784
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622421
SamplesNA10860
Known GenesBPTF, NOL11, SNORA38B
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)nsv511059
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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