A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440425



Internal ID218932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:192485039..192485101hg38UCSC Ensembl
chr3:192202828..192202890hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16945889
Samples
Known GenesFGF12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440425
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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