A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17853495



Internal ID22037138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2129427..2129427hg38UCSC Ensembl
chr3:2171111..2171111hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6253602
Supporting Variants
Samples
Known GenesCNTN4, CNTN4-AS2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17853495
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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