A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17389674



Internal ID22447544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22358258..22904985hg38UCSC Ensembl
chr22:22712606..23247165hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38546728
hg19534560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5960640
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)nssv17389674
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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