A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16907072



Internal ID5498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100585211..100587551hg38UCSC Ensembl
chr1:101050767..101053107hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg382341
hg192341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5428591
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16907072
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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