A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974786



Internal ID50571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150599006..150599113hg38UCSC Ensembl
chr5:149978568..149978675hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5456499
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974786
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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