A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16891927



Internal ID168809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:171983398..171983398hg38UCSC Ensembl
chr1:171952538..171952538hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5536246
Supporting Variants
Samples
Known GenesDNM3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16891927
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.250476


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