A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17394821



Internal ID22452691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23830649..23830649hg38UCSC Ensembl
chr22:24172836..24172836hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5979512
Supporting Variants
Samples
Known GenesSMARCB1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17394821
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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