A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6253602



Internal ID22058212
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 StatusM
Merged Variants
Supporting Variantsnssv17853495
Samples
Known GenesCNTN4, CNTN4-AS2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6253602
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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