A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17648992



Internal ID21841039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30402758..30402758hg38UCSC Ensembl
chr22:30798747..30798747hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6102633
Supporting Variants
Samples
Known GenesSEC14L2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17648992
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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