A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508399



Internal ID15480075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31861697..31934646hg38UCSC Ensembl
Outerchr6:31829474..31902423hg19UCSC Ensembl
Outerchr6:31937453..32010402hg18UCSC Ensembl
Outerchr6:31937453..32010402hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3872950
hg1972950
hg1872950
hg1772950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622546
SamplesNA18994
Known GenesC2, EHMT2, LOC102060414, NEU1, SLC44A4, ZBTB12
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)nsv508399
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