A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508251



Internal ID15824278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:145720522..145774326hg38UCSC Ensembl
Outerchr3:145438309..145492113hg19UCSC Ensembl
Outerchr3:146920999..146974803hg18UCSC Ensembl
Outerchr3:146921007..146974811hg17UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg3853805
hg1953805
hg1853805
hg1753805
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618723
SamplesNA10860
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)nsv508251
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer