A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226630



Internal ID22369366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:30745825..30805138hg38UCSC Ensembl
Outerchr14:31215031..31274344hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3859314
hg1959314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257139, nssv14257140, nssv14257141
SamplesNA19238, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226630
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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