A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509709



Internal ID15477207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79685368..79838375hg38UCSC Ensembl
Outerchr18:77445368..77598375hg19UCSC Ensembl
Outerchr18:75546356..75699363hg18UCSC Ensembl
Outerchr18:75546356..75699363hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg386675
hg196675
hg186675
hg176675
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619738
SamplesNA10860
Known GenesCTDP1
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)nsv509709
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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