A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243994



Internal ID22375734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:115696979..115704618hg38UCSC Ensembl
Outerchr12:116134784..116142423hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg381068
hg191068
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255990, nssv14255993, nssv14255505, nssv14255994, nssv14255504, nssv14255995, nssv14255991, nssv14255992
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243994
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