A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5487249



Internal ID264591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:141146258..141146769hg38UCSC Ensembl
chr8:142156357..142156868hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38512
hg19512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17019932
Samples
Known GenesDENND3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5487249
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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