A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv617813



Internal ID15816968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:42836234..42842234hg38UCSC Ensembl
Outerchr11:42857784..42863784hg19UCSC Ensembl
Outerchr11:42814360..42820360hg18UCSC Ensembl
Outerchr11:42814360..42820360hg17UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv507591
Supporting Variants
SamplesCHM
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)nssv617813
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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