A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235193



Internal ID22373228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63024296..63030623hg38UCSC Ensembl
Outerchr20:61655648..61661975hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381370
hg191370
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266959, nssv14266957, nssv14266958, nssv14266953, nssv14266954, nssv14266955, nssv14266956
SamplesHG00512, NA19238, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLOC63930
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235193
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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