A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16896124



Internal ID171565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:213265090..213265090hg38UCSC Ensembl
chr1:213438433..213438433hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38290
hg19290
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5541792
Supporting Variants
Samples
Known GenesRPS6KC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16896124
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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