A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17404315



Internal ID22462185
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 StatusS
Merged Variantsnsv5966739
Supporting Variants
Samples
Known GenesRIBC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17404315
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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