A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531251



Internal ID307213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:10241426..10241608hg38UCSC Ensembl
chr20:10222074..10222256hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17730820
Samples
Known GenesSNAP25
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531251
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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