A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974911



Internal ID50656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:127053532..127057246hg38UCSC Ensembl
chr5:126389224..126392938hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg383715
hg193715
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5464931
Supporting Variants
Samples
Known GenesC5orf63
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974911
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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