A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5526149



Internal ID302288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:38510627..38510926hg38UCSC Ensembl
chr20:37139270..37139569hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732318
Samples
Known GenesRALGAPB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5526149
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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