A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5882790



Internal ID22657767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:20715775..20716861hg38UCSC Ensembl
chr2:20915535..20916621hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg381087
hg191087
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17393170
Samples
Known GenesC2orf43
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5882790
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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