A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488870



Internal ID266164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11720197..11723486hg38UCSC Ensembl
chr8:11577706..11580995hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg383290
hg193290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17008314
Samples
Known GenesGATA4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488870
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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