A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5394247



Internal ID173681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47999855..47999906hg38UCSC Ensembl
chr1:48465527..48465578hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902693
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5394247
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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