A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214560



Internal ID22361180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:28396577..28418231hg38UCSC Ensembl
Outerchr14:28865783..28887437hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3821655
hg1921655
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257131, nssv14257127, nssv14257130, nssv14257129, nssv14257128
SamplesHG00512, NA19238, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214560
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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