A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417441



Internal ID196638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:36441469..36441934hg38UCSC Ensembl
chr1:36907070..36907535hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38466
hg19466
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901448
Samples
Known GenesOSCP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417441
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