A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690538



Internal ID114204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104582216..104582308hg38UCSC Ensembl
chr12:104975994..104976086hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5494169
Supporting Variants
Samples
Known GenesCHST11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690538
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001717


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