A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17377671



Internal ID22435541
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 StatusS
Merged Variantsnsv5931378
Supporting Variants
Samples
Known GenesARG2, ATP6V1D, EIF2S1, MPP5, PIGH, PLEK2, PLEKHH1, TMEM229B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17377671
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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