A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17683890



Internal ID107556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50303778..50305719hg38UCSC Ensembl
chr1:50769450..50771391hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381942
hg191942
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5420332
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17683890
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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