A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509140



Internal ID15825166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:79371883..79388493hg38UCSC Ensembl
Outerchr6:80081600..80098210hg19UCSC Ensembl
Outerchr6:80138319..80154929hg18UCSC Ensembl
Outerchr6:80138319..80154929hg17UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3826772
hg1926772
hg1826772
hg1726772
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620855, nssv623479, nssv619453, nssv618052
SamplesCHM, NA15510, NA18994, NA10860
Known Genes
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)nsv509140
Frequency
Sample Size4
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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