A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510766



Internal ID15478262
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
hg3893396
hg19108663
hg18108663
hg17108663
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620120
SamplesNA15510
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)nsv510766
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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