A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5458000



Internal ID236034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3951472..3956726hg38UCSC Ensembl
chr6:3951706..3956960hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg385255
hg195255
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16979899
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5458000
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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