A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5905212



Internal ID22680396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:34310257..34312128hg38UCSC Ensembl
chr6:34278034..34279905hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg381872
hg191872
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17436420
Samples
Known GenesNUDT3, RPS10-NUDT3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5905212
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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