A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5954704



Internal ID22729939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22410275..22899615hg38UCSC Ensembl
chr22:22764607..23241795hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38489341
hg19477189
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1383n209
Supporting Variantsnssv17394611
Samples
Known GenesGGTLC2, IGLL5, LOC648691, MIR650, POM121L1P, PRAME, ZNF280A, ZNF280B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5954704
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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