A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5949882



Internal ID22725321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:38034552..38037159hg38UCSC Ensembl
chr20:36662954..36665561hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg382608
hg192608
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17395197
Samples
Known GenesRPRD1B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5949882
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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