A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217570



Internal ID22363191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:85725629..85742779hg38UCSC Ensembl
Outerchr14:86191973..86209123hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3817151
hg1917151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258326, nssv14258325
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217570
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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