A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5901850



Internal ID22677003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138401091..138409907hg38UCSC Ensembl
chr5:137736780..137745596hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg388817
hg198817
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17429073
Samples
Known GenesKDM3B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5901850
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer