A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508656



Internal ID15824683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:115773143..115854581hg38UCSC Ensembl
Outerchr11:115643861..115725299hg19UCSC Ensembl
Outerchr11:115149071..115230509hg18UCSC Ensembl
Outerchr11:115149071..115230509hg17UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg3881439
hg1981439
hg1881439
hg1781439
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622596
SamplesNA18994
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)nsv508656
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