A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5889205



Internal ID22664220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:65187946..65235208hg38UCSC Ensembl
chr6:65897839..65945101hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3847263
hg1947263
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17442340
Samples
Known GenesEYS
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5889205
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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