A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471127



Internal ID248871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:27216092..27218206hg38UCSC Ensembl
chr6:27183871..27185985hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg382115
hg192115
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16980169
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471127
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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