A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6260008



Internal ID22064618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:173818911..173818911hg38UCSC Ensembl
chr3:173536701..173536701hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17855271
Samples
Known GenesNLGN1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6260008
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