A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3933163



Internal ID21353233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54203779..54203779hg38UCSC Ensembl
chr14:54670497..54670497hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg38224
hg19224
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15195123
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3933163
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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