A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5963542



Internal ID22738477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23091094..23091209hg38UCSC Ensembl
chr22:23433281..23433396hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17396466
Samples
Known GenesGNAZ, RTDR1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5963542
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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