A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975087



Internal ID50782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:135050314..135050389hg38UCSC Ensembl
chr5:134386004..134386079hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5472288
Supporting Variants
Samples
Known GenesC5orf66
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975087
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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