A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510584



Internal ID15478080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:46453726..46473151hg38UCSC Ensembl
Outerchr13:47027861..47047286hg19UCSC Ensembl
Outerchr13:45925862..45945287hg18UCSC Ensembl
Outerchr13:45925862..45945287hg17UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3819426
hg1919426
hg1819426
hg1719426
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617405
SamplesCHM
Known Genes
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)nsv510584
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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