A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448063



Internal ID226348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:16450736..16451236hg38UCSC Ensembl
chr3:16492243..16492743hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16930488
Samples
Known GenesRFTN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448063
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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