A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5930108



Internal ID22705369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80313544..80314203hg38UCSC Ensembl
chr17:78287344..78288003hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38660
hg19660
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17384237
Samples
Known GenesRNF213
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5930108
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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