A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5966739



Internal ID22741674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45423945..45424102hg38UCSC Ensembl
chr22:45819825..45819982hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17404315
Samples
Known GenesRIBC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5966739
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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