A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509675



Internal ID15477173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:80740098..80806572hg38UCSC Ensembl
Outerchr17:78713898..78780372hg19UCSC Ensembl
Outerchr17:76328493..76394967hg18UCSC Ensembl
Outerchr17:76328493..76394967hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg383426
hg193426
hg183426
hg173426
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623725
SamplesNA18994
Known GenesRPTOR
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)nsv509675
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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