A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17389090



Internal ID22446960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88490043..88575341hg38UCSC Ensembl
chr14:88956387..89041685hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3885299
hg1985299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5941379
Supporting Variants
Samples
Known GenesPTPN21, ZC3H14
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17389090
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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