A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690697



Internal ID114363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112933858..112934417hg38UCSC Ensembl
chr12:113371663..113372222hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38560
hg19560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5507823
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690697
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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