A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241141



Internal ID22374887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88657371..88674584hg38UCSC Ensembl
Outerchr16:88723779..88740992hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg381713
hg191713
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260861, nssv14260862, nssv14260863, nssv14260860
SamplesHG00512, NA19238, NA19239, HG00732
Known GenesMVD, SNAI3-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241141
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