A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5955994



Internal ID22731187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22322962..22918162hg38UCSC Ensembl
chr22:22677318..23260334hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38595201
hg19583017
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1383n209
Supporting Variantsnssv17407134
Samples
Known GenesBMS1P20, GGTLC2, IGLL5, LOC648691, MIR650, POM121L1P, PRAME, ZNF280A, ZNF280B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5955994
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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