A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5581983



Internal ID21530490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125324555..125324871hg38UCSC Ensembl
chr8:126336797..126337113hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17144916
SamplesHG00731
Known GenesNSMCE2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5581983
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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