A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5929067



Internal ID22704315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:17647017..17648459hg38UCSC Ensembl
chr20:17627662..17629104hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg381443
hg191443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17404696
Samples
Known GenesRRBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5929067
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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