A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509619



Internal ID15825645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:47777030..47799414hg38UCSC Ensembl
Outerchr16:47810941..47833325hg19UCSC Ensembl
Outerchr16:46368442..46390826hg18UCSC Ensembl
Outerchr16:46368442..46390826hg17UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg389861
hg199861
hg189861
hg179861
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618117
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)nsv509619
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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