A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17076696



Internal ID21462323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104267241..104267241hg38UCSC Ensembl
chr12:104661019..104661019hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5652524
Supporting Variants
SamplesHG02818
Known GenesTXNRD1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17076696
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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