A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621638



Internal ID15474300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:58592871..58731990hg38UCSC Ensembl
Outerchr16:58626775..58765894hg19UCSC Ensembl
Outerchr16:57184276..57323395hg18UCSC Ensembl
Outerchr16:57184276..57323395hg17UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38139120
hg19139120
hg18139120
hg17139120
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511049
Supporting Variants
SamplesNA15510
Known GenesCNOT1, GOT2, SLC38A7
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)nssv621638
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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