A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215430



Internal ID22361772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:112275337..112343027hg38UCSC Ensembl
Outerchr13:112929651..112997341hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3867691
hg1967691
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256954, nssv14256955
SamplesHG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215430
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer