A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17425611



Internal ID22483481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:180010266..180010266hg38UCSC Ensembl
chr3:179728054..179728054hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5950949
Supporting Variants
Samples
Known GenesPEX5L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17425611
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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