A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5895820



Internal ID22670907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:204556871..204562081hg38UCSC Ensembl
chr2:205421594..205426804hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg385211
hg195211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17406434
Samples
Known GenesPARD3B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5895820
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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