A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688929



Internal ID112595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70348468..70349941hg38UCSC Ensembl
chr12:70742248..70743721hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg381474
hg191474
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5502360
Supporting Variants
Samples
Known GenesCNOT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688929
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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