A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690421



Internal ID114087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102518717..102522191hg38UCSC Ensembl
chr12:102912495..102915969hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg383475
hg193475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5496643
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690421
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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