A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231636



Internal ID22372286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:64947194..64951722hg38UCSC Ensembl
Outerchr14:65413912..65418440hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38722
hg19722
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258228
SamplesHG00732
Known GenesCHURC1-FNTB, RAB15
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231636
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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