A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5401143



Internal ID180520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46663551..46663602hg38UCSC Ensembl
chr1:47129223..47129274hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901886
Samples
Known GenesATPAF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5401143
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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