A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618087



Internal ID15817242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:70362764..70379748hg38UCSC Ensembl
Outerchr11:70208870..70225854hg19UCSC Ensembl
Outerchr11:69886518..69903502hg18UCSC Ensembl
Outerchr11:69886518..69903502hg17UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg384589
hg194589
hg184589
hg174589
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509426
Supporting Variants
SamplesCHM
Known GenesPPFIA1
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)nssv618087
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