A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5630901



Internal ID21579206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:64643112..64643112hg38UCSC Ensembl
chr8:65555669..65555669hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17141809
SamplesHG03486
Known GenesCYP7B1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5630901
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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