A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470387



Internal ID248148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:119261740..119282634hg38UCSC Ensembl
chr6:119582905..119603799hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3820895
hg1920895
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16987495
Samples
Known GenesMAN1A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470387
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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