A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5413433



Internal ID192723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45653920..45653971hg38UCSC Ensembl
chr6:45621657..45621708hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16981720
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5413433
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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