A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448672



Internal ID226937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119426304..119432232hg38UCSC Ensembl
chr3:119145151..119151079hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg385929
hg195929
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939446
Samples
Known GenesTMEM39A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448672
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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