A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235034



Internal ID22373188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:26767218..26775306hg38UCSC Ensembl
Outerchr22:27163181..27171269hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg381155
hg191155
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269184, nssv14269185, nssv14269186
SamplesHG00731, HG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235034
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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