A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16907087



Internal ID5506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100749611..100752502hg38UCSC Ensembl
chr1:101215167..101218058hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg382892
hg192892
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5428987
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16907087
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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