A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6254541



Internal ID22059151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113978360..113978360hg38UCSC Ensembl
chr3:113697207..113697207hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17854158
Samples
Known GenesKIAA1407
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6254541
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