A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5616012



Internal ID21564317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:99645303..99645303hg38UCSC Ensembl
chr3:99364147..99364147hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17136685
SamplesHG02818
Known GenesCOL8A1, MIR548G
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5616012
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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