A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054612



Internal ID104242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4175998..4177845hg38UCSC Ensembl
chr12:4285164..4287011hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg381848
hg191848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5500871
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054612
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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