A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453427



Internal ID231549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:9180775..9183520hg38UCSC Ensembl
chr3:9222459..9225204hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg382746
hg192746
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16930793
Samples
Known GenesSRGAP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453427
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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