A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16945325



Internal ID30887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:4422833..4422884hg38UCSC Ensembl
chr4:4424560..4424611hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5409292
Supporting Variants
Samples
Known GenesSTX18
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16945325
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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