A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5963539



Internal ID22738474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47324298..47324298hg38UCSC Ensembl
chr3:47365788..47365788hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17427880
Samples
Known GenesKLHL18
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5963539
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