A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974778



Internal ID50565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150483112..150483189hg38UCSC Ensembl
chr5:149862675..149862752hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5454023
Supporting Variants
Samples
Known GenesLOC102546298
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974778
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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