A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16928255



Internal ID19533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218711870..218711870hg38UCSC Ensembl
chr2:219576593..219576593hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5405397
Supporting Variants
Samples
Known GenesTTLL4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16928255
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.194426


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