A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16904973



Internal ID4133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50111090..50111141hg38UCSC Ensembl
chr1:50576762..50576813hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5396739
Supporting Variants
Samples
Known GenesELAVL4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16904973
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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