A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243791



Internal ID22375672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:36954138..36973919hg38UCSC Ensembl
Outerchr22:37350179..37369960hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38723
hg19723
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270004, nssv14270002, nssv14270003
SamplesHG00512, NA19239, HG00731
Known GenesLOC100506241
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243791
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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