A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5422101



Internal ID201154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109742200..109752692hg38UCSC Ensembl
chr1:110284822..110295314hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3810493
hg1910493
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16908008
Samples
Known GenesEPS8L3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5422101
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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