A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439598



Internal ID218133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:30653559..30653616hg38UCSC Ensembl
chr3:30695051..30695108hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16930423
Samples
Known GenesTGFBR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439598
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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