A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508433



Internal ID15824460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:139275241..139289854hg38UCSC Ensembl
Outerchr6:139596378..139610991hg19UCSC Ensembl
Outerchr6:139638071..139652684hg18UCSC Ensembl
Outerchr6:139638071..139652684hg17UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg3814614
hg1914614
hg1814614
hg1714614
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618800
SamplesNA10860
Known GenesTXLNB
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)nsv508433
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