A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16898483



Internal ID173123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:238277748..238277748hg38UCSC Ensembl
chr1:238441048..238441048hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38164
hg19164
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5394927
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16898483
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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