A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975755



Internal ID51237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:151279184..151279266hg38UCSC Ensembl
chr5:150658745..150658827hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5465435
Supporting Variants
Samples
Known GenesSLC36A3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975755
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002031


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