A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241728



Internal ID22375053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:36124421..36129948hg38UCSC Ensembl
Outerchr22:36520469..36525996hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg381029
hg191029
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269129
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241728
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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