A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509282



Internal ID15825308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:139960149..140004367hg38UCSC Ensembl
Outerchr8:140972582..141014464hg19UCSC Ensembl
Outerchr8:141041764..141083646hg18UCSC Ensembl
Outerchr8:141041764..141083646hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg383066
hg193066
hg183066
hg173066
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623547
SamplesNA18994
Known GenesTRAPPC9
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)nsv509282
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