A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17079323



Internal ID21444114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1908811..1908811hg38UCSC Ensembl
chr12:2017977..2017977hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5653091
Supporting Variants
SamplesHG00732
Known GenesCACNA2D4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17079323
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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