A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17076746



Internal ID21501808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108623635..108623694hg38UCSC Ensembl
chr12:109017411..109017470hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5597609
Supporting Variants
SamplesNA19239
Known GenesSELPLG
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17076746
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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