A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684601



Internal ID108267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114080558..114081862hg38UCSC Ensembl
chr12:114518363..114519667hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg381305
hg191305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5494312
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684601
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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