A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6260232



Internal ID22064842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40713016..40713016hg38UCSC Ensembl
chr5:40713118..40713118hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17855581
Samples
Known GenesTTC33
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6260232
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