A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16905986



Internal ID4790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54112661..54128406hg38UCSC Ensembl
chr1:54578334..54594079hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3815746
hg1915746
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5432280
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16905986
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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