A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619707



Internal ID15818288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:4865132..4918672hg38UCSC Ensembl
Outerchr17:4768427..4821967hg19UCSC Ensembl
Outerchr17:4714617..4762745hg18UCSC Ensembl
Outerchr17:4714617..4762745hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg384972
hg194972
hg184972
hg174972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509647
Supporting Variants
SamplesNA10860
Known GenesC17orf107, CHRNE, MINK1
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)nssv619707
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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