A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472579



Internal ID250284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:93447685..93447921hg38UCSC Ensembl
chr6:94157403..94157639hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16985436
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472579
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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