A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690093



Internal ID113759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:96407120..96414815hg38UCSC Ensembl
chr12:96800898..96808593hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg387696
hg197696
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5506671
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690093
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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