A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226434



Internal ID22369234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:48541954..48575053hg38UCSC Ensembl
Outerchr14:49011157..49044256hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3833100
hg1933100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258915
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226434
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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