A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5404840



Internal ID184185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:101786943..101786994hg38UCSC Ensembl
chr8:102799171..102799222hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17015737
Samples
Known GenesNCALD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5404840
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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