A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468678



Internal ID246474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:83241180..83251452hg38UCSC Ensembl
chr6:83950899..83961171hg19UCSC Ensembl
Cytoband6q14.2
Allele length
AssemblyAllele length
hg3810273
hg1910273
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16983967
Samples
Known GenesME1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468678
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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