A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500583



Internal ID277516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:37012561..37016819hg38UCSC Ensembl
chr13:37586698..37590956hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg384259
hg194259
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686927
Samples
Known GenesSUPT20H
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500583
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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