A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5658878



Internal ID21607183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:68935880..68935880hg38UCSC Ensembl
chr14:69402597..69402597hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17086703
SamplesHG03683
Known GenesACTN1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5658878
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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