A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509647



Internal ID6099645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:4768427..4821967hg19UCSC Ensembl
Outerchr17:4714617..4762745hg18UCSC Ensembl
Outerchr17:4714617..4762745hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv619707, nssv621034, nssv623708
SamplesNA18994, NA15510, NA10860
Known GenesC17orf107, CHRNE, MINK1
Method
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)nsv509647
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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