A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439445



Internal ID217981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52533777..52533896hg38UCSC Ensembl
chr3:52567793..52567912hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16932766
Samples
Known GenesNT5DC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439445
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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