A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3295025



Internal ID22388363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44154940..44154995hg38UCSC Ensembl
chr22:44550820..44550875hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14432886
SamplesHG00514
Known GenesPARVB
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3295025
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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