A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214635



Internal ID22361230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:59873385..59900273hg38UCSC Ensembl
Outerchr14:60340103..60366991hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3826889
hg1926889
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258313, nssv14258314, nssv14258311, nssv14258316, nssv14258315, nssv14258312
SamplesHG00512, NA19239, HG00731, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214635
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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