A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975077



Internal ID50775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134866168..134869558hg38UCSC Ensembl
chr5:134201858..134205248hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg383391
hg193391
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5464718
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975077
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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