A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5832757



Internal ID22607692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:226839622..226844701hg38UCSC Ensembl
chr2:227704338..227709417hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg385080
hg195080
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17489347
Samples
Known GenesRHBDD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5832757
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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