A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5396730



Internal ID176144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42182378..42182378hg38UCSC Ensembl
chr8:42039896..42039896hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17009768
Samples
Known GenesPLAT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5396730
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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