A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4753775



Internal ID20529635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2129423..2129423hg38UCSC Ensembl
chr3:2171107..2171107hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16280593
Samples
Known GenesCNTN4, CNTN4-AS2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4753775
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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