A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17393134



Internal ID22451004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29999873..30001413hg38UCSC Ensembl
chr22:30395862..30397402hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg381541
hg191541
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5961822
Supporting Variants
Samples
Known GenesMTMR3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17393134
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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