A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5933288



Internal ID22708599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21427414..21427822hg38UCSC Ensembl
chr14:21895573..21895981hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38409
hg19409
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17384626
Samples
Known GenesCHD8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5933288
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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