A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6012917



Internal ID21922260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138765722..138770710hg38UCSC Ensembl
chr5:138101411..138106399hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg384989
hg194989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17547602
Samples
Known GenesCTNNA1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6012917
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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