A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234238



Internal ID22372972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:31350987..31369248hg38UCSC Ensembl
Outerchr22:31746973..31765234hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38833
hg19833
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268579, nssv14268578, nssv14268580, nssv14268577, nssv14268581
SamplesHG00512, NA19238, NA19239, HG00731, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234238
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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