A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5412789



Internal ID192090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:30882694..30882703hg38UCSC Ensembl
chr6:30850471..30850480hg19UCSC Ensembl
Cytoband6p21.33
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 Variantsnssv16980393
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5412789
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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