A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16971713



Internal ID48498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:102457789..102507284hg38UCSC Ensembl
chr5:101793493..101842988hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3849496
hg1949496
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5455083
Supporting Variants
Samples
Known GenesSLCO6A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16971713
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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