A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421672



Internal ID200736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:34005918..34008723hg38UCSC Ensembl
chr1:34471519..34474324hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg382806
hg192806
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16900577
Samples
Known GenesCSMD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421672
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