A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246930



Internal ID22376567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:48675064..48701009hg38UCSC Ensembl
Outerchr22:49070876..49096821hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38889
hg19889
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268277, nssv14268276, nssv14268274, nssv14268275
SamplesHG00512, NA19238, NA19239, HG00732
Known GenesFAM19A5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246930
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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