A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5961508



Internal ID22736455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20329386..20369266hg38UCSC Ensembl
chr22:20316909..20723556hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3839881
hg19406648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17395461
Samples
Known GenesLOC729444, PI4KAP1, RIMBP3, TMEM191B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5961508
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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