A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257259



Internal ID22282747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:20867177..20888206hg38UCSC Ensembl
Outerchr14:21335336..21356365hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3821030
hg1921030
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215151
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257259
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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