A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244631



Internal ID22375913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:31619312..31625375hg38UCSC Ensembl
Outerchr22:32015298..32021361hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269187
SamplesHG00731
Known GenesMIR7109, PISD
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244631
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