A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17373733



Internal ID22599402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:94288857..94288929hg38UCSC Ensembl
chr13:94941111..94941183hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5946186
Supporting Variants
Samples
Known GenesGPC6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17373733
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.13


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