A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509632



Internal ID15477130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:74311644..74471617hg38UCSC Ensembl
Outerchr16:74345542..74505515hg19UCSC Ensembl
Outerchr16:72903043..73063016hg18UCSC Ensembl
Outerchr16:72903043..73063016hg17UCSC Ensembl
Cytoband16q22.3
Allele length
AssemblyAllele length
hg3814616
hg1914616
hg1814616
hg1714616
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619695
SamplesNA10860
Known GenesCLEC18B, GLG1, LOC283922
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)nsv509632
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