A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17121927



Internal ID21500319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49926623..49926623hg38UCSC Ensembl
chr22:50320271..50320271hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg382191
hg192191
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5669909
Supporting Variants
SamplesNA19239
Known GenesCRELD2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17121927
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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