A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17394985



Internal ID22452855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22395483..22904986hg38UCSC Ensembl
chr22:22749821..23247166hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38509504
hg19497346
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5959927
Supporting Variants
Samples
Known GenesGGTLC2, IGLL5, LOC648691, MIR650, POM121L1P, PRAME, ZNF280A, ZNF280B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17394985
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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