A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235130



Internal ID22373211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:14593740..14609571hg38UCSC Ensembl
Outerchr19:14704552..14720383hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg381883
hg191883
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262621, nssv14262628, nssv14262627, nssv14262622, nssv14262623, nssv14262625, nssv14262626, nssv14262624
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCLEC17A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235130
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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