A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509103



Internal ID15476601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177308751..177414575hg38UCSC Ensembl
Outerchr5:176735752..176841576hg19UCSC Ensembl
Outerchr5:176668358..176774182hg18UCSC Ensembl
Outerchr5:176668358..176774182hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg386704
hg196704
hg186704
hg176704
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619431
SamplesNA10860
Known GenesF12, LMAN2, MXD3, PFN3, RGS14, SLC34A1
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)nsv509103
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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