A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444032



Internal ID222414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246642535..246642772hg38UCSC Ensembl
chr1:246805837..246806074hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897805
Samples
Known GenesCNST
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444032
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