A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17425720



Internal ID22483590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179830809..179830954hg38UCSC Ensembl
chr5:179257809..179257954hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5898270
Supporting Variants
Samples
Known GenesSQSTM1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17425720
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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