A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16903189



Internal ID2946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52614010..52616468hg38UCSC Ensembl
chr1:53079682..53082140hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382459
hg192459
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5427977
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16903189
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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