A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16893547



Internal ID169857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:198771311..198771485hg38UCSC Ensembl
chr1:198740440..198740614hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5452919
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16893547
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.004527


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