A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5949399



Internal ID22724848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22381343..22893778hg38UCSC Ensembl
chr22:22735712..23235958hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38512436
hg19500247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1383n209
Supporting Variantsnssv17404367
Samples
Known GenesGGTLC2, IGLL5, LOC648691, MIR650, POM121L1P, PRAME, ZNF280A, ZNF280B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5949399
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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