A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421580



Internal ID200647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152489543..152734782hg38UCSC Ensembl
chr1:152462019..152707258hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38245240
hg19245240
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891214
Samples
Known GenesC1orf68, CRCT1, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421580
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