A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5640390



Internal ID21588695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:132713193..132713193hg38UCSC Ensembl
chr8:133725439..133725439hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17147691
SamplesHG00732
Known GenesTMEM71
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5640390
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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