A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210374



Internal ID22358303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:60564620..60611157hg38UCSC Ensembl
Outerchr14:61031338..61077875hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3846538
hg1946538
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258905, nssv14258904
SamplesHG00731, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210374
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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