A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16904853



Internal ID4055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42679749..42679800hg38UCSC Ensembl
chr1:43145420..43145471hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5395749
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16904853
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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