A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16891992



Internal ID168852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:175420815..175420866hg38UCSC Ensembl
chr1:175389951..175390002hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5557425
Supporting Variants
Samples
Known GenesTNR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16891992
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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