A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510921



Internal ID15826943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:77782923..77812913hg38UCSC Ensembl
Outerchr6:78492640..78522630hg19UCSC Ensembl
Outerchr6:78549359..78579349hg18UCSC Ensembl
Outerchr6:78549359..78579349hg17UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3829991
hg1929991
hg1829991
hg1729991
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621592
SamplesNA15510
Known GenesMEI4
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)nsv510921
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