A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17469729



Internal ID22527619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88547562..88549661hg38UCSC Ensembl
chr14:89013906..89016005hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg382100
hg192100
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5855633
Supporting Variants
Samples
Known GenesPTPN21
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17469729
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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