A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508482



Internal ID15824509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:110809545..110854950hg38UCSC Ensembl
Outerchr1:111352167..111397572hg19UCSC Ensembl
Outerchr1:111153690..111199095hg18UCSC Ensembl
Outerchr1:111064209..111109614hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3845406
hg1945406
hg1845406
hg1745406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618982, nssv620140
SamplesNA15510, NA10860
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)nsv508482
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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