A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6253723



Internal ID22058333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:14430827..14430827hg38UCSC Ensembl
chr3:14472335..14472335hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38235
hg19235
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17854770
Samples
Known GenesSLC6A6
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6253723
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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