A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17076740



Internal ID21401764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108537933..108537933hg38UCSC Ensembl
chr12:108931709..108931709hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38858
hg19858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5648432
Supporting Variants
SamplesHG00096
Known GenesSART3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17076740
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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