A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509742



Internal ID15477240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:39853716..39947111hg38UCSC Ensembl
Outerchr19:40344356..40453018hg19UCSC Ensembl
Outerchr19:45036196..45144858hg18UCSC Ensembl
Outerchr19:45036196..45144858hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3816632
hg1916632
hg1816632
hg1716632
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623760
SamplesNA18994
Known GenesFCGBP
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)nsv509742
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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