A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5485936



Internal ID263315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:73665440..73669275hg38UCSC Ensembl
chr8:74577675..74581510hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg383836
hg193836
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17012081
Samples
Known GenesSTAU2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5485936
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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