A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222014



Internal ID22366220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:86287071..86287135hg38UCSC Ensembl
chr14:86753415..86753479hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14389691, nssv14381125, nssv14391093, nssv14373629, nssv14372910, nssv14385938
SamplesHG00512, NA19238, HG00731, NA19240, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222014
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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