A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483609



Internal ID261044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:29473040..29474758hg38UCSC Ensembl
chr8:29330557..29332275hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381719
hg191719
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011184
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483609
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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