A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17090140



Internal ID21491675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88465960..88465960hg38UCSC Ensembl
chr14:88932304..88932304hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5662624
Supporting Variants
SamplesNA19238
Known GenesPTPN21
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17090140
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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