A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5492348



Internal ID269563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:63768068..63783927hg38UCSC Ensembl
chr8:64680626..64696484hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg3815860
hg1915859
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17012622
Samples
Known GenesLOC286184
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5492348
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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