A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16894083



Internal ID170209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:193741335..193741803hg38UCSC Ensembl
chr1:193710465..193710933hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg38469
hg19469
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443446
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16894083
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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