A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684820



Internal ID108486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118796655..118852819hg38UCSC Ensembl
chr12:119234460..119290624hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3856165
hg1956165
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5494194
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684820
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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