A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510473



Internal ID15477971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:32897100..32903100hg38UCSC Ensembl
Outerchr19:33388006..33394006hg19UCSC Ensembl
Outerchr19:38079846..38085846hg18UCSC Ensembl
Outerchr19:38079846..38085846hg17UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618447, nssv621463
SamplesCHM, NA15510
Known GenesCEP89
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)nsv510473
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