A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17484219



Internal ID22542127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46962788..46966262hg38UCSC Ensembl
chr22:47358684..47362158hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg383475
hg193475
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5880488
Supporting Variants
Samples
Known GenesTBC1D22A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17484219
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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