A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690088



Internal ID113754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:96247415..96248073hg38UCSC Ensembl
chr12:96641193..96641851hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38659
hg19659
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5503490
Supporting Variants
Samples
Known GenesELK3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690088
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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