A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5525714



Internal ID301863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:43463011..43463120hg38UCSC Ensembl
chr20:42091651..42091760hg19UCSC Ensembl
Cytoband20q13.11
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726001
Samples
Known GenesSRSF6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5525714
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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