A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225222



Internal ID22368420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:98301344..98327245hg38UCSC Ensembl
Outerchr14:98767681..98793582hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3825902
hg1925902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258380, nssv14258378, nssv14258381, nssv14258379
SamplesHG00512, HG00732, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225222
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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