A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5492134



Internal ID269354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:615928..1447488hg38UCSC Ensembl
chr8:565928..1395654hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38831561
hg19829727
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17007888
Samples
Known GenesERICH1, ERICH1-AS1, LOC286083
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5492134
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer