A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17132122



Internal ID21441362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49917986..49917986hg38UCSC Ensembl
chr22:50311634..50311634hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5666447
Supporting Variants
SamplesHG00732
Known GenesALG12
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17132122
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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