A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212998



Internal ID22360084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88684239..88684572hg38UCSC Ensembl
chr14:89150583..89150916hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14390664, nssv14374054
SamplesNA19238, NA19239
Known GenesEML5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212998
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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