A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5475552



Internal ID253187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12819981..12820621hg38UCSC Ensembl
chr8:12677490..12678130hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38641
hg19641
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17007425
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5475552
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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