A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17735307



Internal ID158973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:4951414..5428388hg38UCSC Ensembl
chr5:4951527..5428501hg19UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg38476975
hg19476975
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5459261
Supporting Variants
Samples
Known GenesADAMTS16, KIAA0947, LINC01020
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17735307
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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