A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5412016



Internal ID191320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:45955585..45955636hg38UCSC Ensembl
chr7:45995184..45995235hg19UCSC Ensembl
Cytoband7p12.3
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 Variantsnssv16995245
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5412016
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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