A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511060



Internal ID15827082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:72838756..72891802hg38UCSC Ensembl
Outerchr17:70834895..70887941hg19UCSC Ensembl
Outerchr17:68346490..68399536hg18UCSC Ensembl
Outerchr17:68346490..68399536hg17UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3853047
hg1953047
hg1853047
hg1753047
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624353
SamplesNA18994
Known GenesSLC39A11
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)nsv511060
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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