A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5395313



Internal ID174736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:90188146..90188191hg38UCSC Ensembl
chr7:89817460..89817505hg19UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17002061
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5395313
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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