A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5413047



Internal ID192345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:24494476..24494527hg38UCSC Ensembl
chr8:24351989..24352040hg19UCSC Ensembl
Cytoband8p21.2
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 Variantsnssv17010369
Samples
Known GenesADAM7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5413047
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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