A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5570235



Internal ID21518599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:113112397..113112448hg38UCSC Ensembl
chr8:114124626..114124677hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17142671
SamplesHG02587
Known GenesCSMD3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5570235
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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