A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211597



Internal ID22359107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:12698688..12699024hg38UCSC Ensembl
chrUn_gl000235:6958..7294hg19UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14434048
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211597
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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