A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212519



Internal ID22359740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44168360..44172930hg38UCSC Ensembl
Outerchr22:44564240..44568810hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg384571
hg194571
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269347
SamplesNA19240
Known GenesPARVB
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212519
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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