A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5952806



Internal ID22728110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27918772..27918772hg38UCSC Ensembl
chr8:27776289..27776289hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17447980
Samples
Known GenesSCARA5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5952806
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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