A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5614277



Internal ID21562582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:63998847..63998847hg38UCSC Ensembl
chr3:63984523..63984523hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17131698
SamplesNA20847
Known GenesATXN7
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5614277
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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