A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5909738



Internal ID22684948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143942330..143942400hg38UCSC Ensembl
chr8:145016498..145016568hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17432254
Samples
Known GenesPLEC
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5909738
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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