A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5931378



Internal ID22706661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:67255048..67637246hg38UCSC Ensembl
chr14:67721765..68103963hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38382199
hg19382199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17377671
Samples
Known GenesARG2, ATP6V1D, EIF2S1, MPP5, PIGH, PLEK2, PLEKHH1, TMEM229B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5931378
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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