A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5616871



Internal ID21565176
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 StatusM
Merged Variants
Supporting Variantsnssv17121753
SamplesNA12878
Known GenesTOMM70A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5616871
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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