A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974760



Internal ID50551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150173447..150175496hg38UCSC Ensembl
chr5:149553010..149555059hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg382050
hg192050
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5454145
Supporting Variants
Samples
Known GenesCDX1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974760
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002967


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