A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690903



Internal ID114569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124730779..124733168hg38UCSC Ensembl
chr12:125215325..125217714hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382390
hg192390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5508116
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690903
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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