A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5918657



Internal ID22693879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:41267321..41269835hg38UCSC Ensembl
chr8:41124840..41127354hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg382515
hg192515
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17443757
Samples
Known GenesSFRP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5918657
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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