A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16971693



Internal ID48485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115215250..115215392hg38UCSC Ensembl
chr5:114550947..114551089hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5454750
Supporting Variants
Samples
Known GenesPGGT1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16971693
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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