A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5917733



Internal ID22692953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:13293522..13295304hg38UCSC Ensembl
chr8:13151031..13152813hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg381783
hg191783
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17433669
Samples
Known GenesDLC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5917733
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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