A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5640504



Internal ID21588809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53136650..53136650hg38UCSC Ensembl
chr8:54049210..54049210hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17145424
SamplesHG00513
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5640504
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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