A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17449554



Internal ID22507424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:5361399..5361994hg38UCSC Ensembl
chr6:5361632..5362227hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg38596
hg19596
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5887749
Supporting Variants
Samples
Known GenesFARS2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17449554
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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