A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16971979



Internal ID48676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:114111497..114111751hg38UCSC Ensembl
chr5:113447194..113447448hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5560403
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16971979
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.001405


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