A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689850



Internal ID113516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:87129756..87151320hg38UCSC Ensembl
chr12:87523533..87545097hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3821565
hg1921565
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510170
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689850
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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