A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5411007



Internal ID190322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:63028324..63028375hg38UCSC Ensembl
chr8:63940883..63940934hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17012898
Samples
Known GenesGGH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5411007
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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