A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478952



Internal ID256494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:36978743..36978799hg38UCSC Ensembl
chr8:36836261..36836317hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17010573
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478952
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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