A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619849



Internal ID15471744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:62125636..62180328hg38UCSC Ensembl
Outerchr20:60700692..60755384hg19UCSC Ensembl
Outerchr20:60134087..60188779hg18UCSC Ensembl
Outerchr20:60134087..60188779hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg385764
hg195764
hg185764
hg175764
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509782
Supporting Variants
SamplesNA10860
Known GenesLSM14B, PSMA7, SS18L1
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)nssv619849
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