A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220677



Internal ID22365307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:83162852..83173032hg38UCSC Ensembl
Outerchr14:83629196..83639376hg19UCSC Ensembl
Cytoband14q31.2
Allele length
AssemblyAllele length
hg3810181
hg1910181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258376, nssv14258375, nssv14258374, nssv14258373
SamplesHG00512, HG00732, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220677
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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