A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5432086



Internal ID210842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47691046..47691046hg38UCSC Ensembl
chr17:45768412..45768412hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713509
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5432086
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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