A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509421



Internal ID15825447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:68570197..68676125hg38UCSC Ensembl
Outerchr11:68337665..68443593hg19UCSC Ensembl
Outerchr11:68094241..68200169hg18UCSC Ensembl
Outerchr11:68094241..68200169hg17UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg383792
hg193792
hg183792
hg173792
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623438, nssv620808
SamplesNA15510, NA18994
Known GenesPPP6R3
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)nsv509421
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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