A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243306



Internal ID22375532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44017033..44070675hg38UCSC Ensembl
Outerchr22:44412913..44466555hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg385440
hg195440
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269133, nssv14269132
SamplesHG00512, HG00514
Known GenesPARVB
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243306
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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