A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17450145



Internal ID22508015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117051282..117053956hg38UCSC Ensembl
chr12:117489087..117491761hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg382675
hg192675
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5860213
Supporting Variants
Samples
Known GenesTESC
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17450145
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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