A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17055302



Internal ID104704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42774085..42781744hg38UCSC Ensembl
chr12:43167887..43175546hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg387660
hg197660
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504645
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17055302
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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