A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16904996



Internal ID4149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53435819..53439484hg38UCSC Ensembl
chr1:53901492..53905157hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383666
hg193666
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5423463
Supporting Variants
Samples
Known GenesSLC25A3P1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16904996
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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