A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17394675



Internal ID22452545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:14041655..14041655hg38UCSC Ensembl
chr3:14083155..14083155hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5957311
Supporting Variants
Samples
Known GenesTPRXL
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17394675
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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