A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902649



Internal ID2584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47315713..47319730hg38UCSC Ensembl
chr1:47781385..47785402hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg384018
hg194018
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5419761
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902649
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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