A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17436420



Internal ID22494290
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 StatusS
Merged Variantsnsv5905212
Supporting Variants
Samples
Known GenesNUDT3, RPS10-NUDT3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17436420
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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