A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16891943



Internal ID168818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:172264415..172278328hg38UCSC Ensembl
chr1:172233555..172247468hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg3813914
hg1913914
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5433066
Supporting Variants
Samples
Known GenesDNM3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16891943
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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