A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509707



Internal ID15477205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79454006..79579450hg38UCSC Ensembl
Outerchr18:77214006..77339450hg19UCSC Ensembl
Outerchr18:75314994..75440438hg18UCSC Ensembl
Outerchr18:75314994..75440438hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg389995
hg199995
hg189995
hg179995
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621056
SamplesNA15510
Known GenesNFATC1
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)nsv509707
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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