A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974985



Internal ID50710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:131812491..131813709hg38UCSC Ensembl
chr5:131148184..131149402hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg381219
hg191219
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5462509
Supporting Variants
Samples
Known GenesLOC728637
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974985
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001251


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