A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5580751



Internal ID21529244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:132704401..132715000hg38UCSC Ensembl
chr8:133716647..133727246hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3810600
hg1910600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17154930
SamplesHG00171
Known GenesTMEM71
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5580751
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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