A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5951875



Internal ID22727216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50173062..50173196hg38UCSC Ensembl
chr22:50611491..50611625hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17400092
Samples
Known GenesPANX2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5951875
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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