A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688056



Internal ID111722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:56956400..57337267hg38UCSC Ensembl
chr13:57530534..57911401hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg38380868
hg19380868
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5496635
Supporting Variants
Samples
Known GenesPRR20A, PRR20B, PRR20C, PRR20D, PRR20E
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688056
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000469


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