A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241802



Internal ID22375074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:37500506..37511952hg38UCSC Ensembl
Outerchr8:37358024..37369470hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg381598
hg191598
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281096
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241802
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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