A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17081173



Internal ID21500311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47516026..47516026hg38UCSC Ensembl
chr12:47909809..47909809hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5662364
Supporting Variants
SamplesNA19239
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17081173
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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