A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509587



Internal ID15477085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:2842958..2874324hg38UCSC Ensembl
Outerchr16:2892959..2924325hg19UCSC Ensembl
Outerchr16:2832960..2864326hg18UCSC Ensembl
Outerchr16:2832960..2864326hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg388576
hg198576
hg188576
hg178576
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621020, nssv623682, nssv619676
SamplesNA18994, NA15510, NA10860
Known GenesPRSS22
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)nsv509587
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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