A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5479809



Internal ID257325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:50489741..50492745hg38UCSC Ensembl
chr8:51402301..51405305hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg383005
hg193005
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011447
Samples
Known GenesSNTG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5479809
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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