A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226978



Internal ID22369605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:54238396..54254461hg38UCSC Ensembl
Outerchr14:54705114..54721179hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg3816066
hg1916066
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258369, nssv14258370, nssv14258368
SamplesHG00512, HG00732, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226978
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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