A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511033



Internal ID15827055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:41133655..41215909hg38UCSC Ensembl
Outerchr14:41602860..41685112hg19UCSC Ensembl
Outerchr14:40672610..40754862hg18UCSC Ensembl
Outerchr14:40672610..40754862hg17UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3882255
hg1982253
hg1882253
hg1782253
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622406
SamplesNA10860
Known GenesLOC644919
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)nsv511033
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