A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5894246



Internal ID22669317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3288766..3324902hg38UCSC Ensembl
chr4:3290493..3326629hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3836137
hg1936137
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17409953
Samples
Known GenesRGS12
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5894246
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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