A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3554108



Internal ID22422977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43614176..43614176hg38UCSC Ensembl
chr22:44010056..44010056hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14450974
SamplesHG00733
Known GenesEFCAB6
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3554108
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