A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17376304



Internal ID22601973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29214327..29218999hg38UCSC Ensembl
chr13:29788464..29793136hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg384673
hg194673
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5932277
Supporting Variants
Samples
Known GenesMTUS2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17376304
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00


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