A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16895512



Internal ID171176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200683343..200686266hg38UCSC Ensembl
chr1:200652471..200655394hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg382924
hg192924
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5441419
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16895512
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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