A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417845



Internal ID197032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:14386384..14498384hg38UCSC Ensembl
chr1:14712880..14824880hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38112001
hg19112001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897026
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417845
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