A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17425924



Internal ID22483794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:35858989..36015150hg38UCSC Ensembl
chr5:35859091..36015252hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38156162
hg19156162
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5897627
Supporting Variants
Samples
Known GenesCAPSL, IL7R, LOC100506406, UGT3A1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17425924
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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