A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5648053



Internal ID21596358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:56139950..56139950hg38UCSC Ensembl
chr14:56606668..56606668hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17088291
SamplesHG00512
Known GenesPELI2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5648053
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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