A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17077254



Internal ID21473429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116859187..116859187hg38UCSC Ensembl
chr12:117296992..117296992hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5649356
Supporting Variants
SamplesHG03371
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17077254
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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