A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248910



Internal ID22377129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1261847..1284490hg38UCSC Ensembl
Outerchr19:1261846..1284489hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38831
hg19831
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263978, nssv14263980, nssv14263979, nssv14263981
SamplesHG00512, NA19239, HG00731, HG00732
Known GenesC19orf24, CIRBP, CIRBP-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248910
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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