A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5412797



Internal ID192098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:131480992..131481043hg38UCSC Ensembl
chr6:131802132..131802183hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969138
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5412797
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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