A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5408048



Internal ID187378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:116682336..116682387hg38UCSC Ensembl
chr1:117224958..117225009hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16889932
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5408048
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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