A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978280



Internal ID52910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178677499..178680536hg38UCSC Ensembl
chr5:178104500..178107537hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg383038
hg193038
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5454479
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978280
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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