A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16896789



Internal ID172007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226034289..226034296hg38UCSC Ensembl
chr1:226221990..226221997hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5539296
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16896789
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002186


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