A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5570123



Internal ID21518487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18009043..18009139hg38UCSC Ensembl
chr8:17866552..17866648hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17154012
SamplesHG03125
Known GenesPCM1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5570123
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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