A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5924400



Internal ID22699627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123946654..123949737hg38UCSC Ensembl
chr8:124958894..124961977hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg383084
hg193084
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17445002
Samples
Known GenesFER1L6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5924400
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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