A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17121753



Internal ID21485326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100393674..100393674hg38UCSC Ensembl
chr3:100112518..100112518hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5616871
Supporting Variants
SamplesNA12878
Known GenesTOMM70A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17121753
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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