A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4392129



Internal ID21383159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137686874..137688197hg38UCSC Ensembl
chr5:137022563..137023886hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg381324
hg191324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15703601
Samples
Known GenesKLHL3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceWong_et_al_2019
Pubmed ID31340865
Accession Number(s)nsv4392129
Frequency
Sample Size174
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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