A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6248997



Internal ID22053607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45400014..45400014hg38UCSC Ensembl
chr13:45974149..45974149hg19UCSC Ensembl
Cytoband13q14.13
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 Variantsnssv17844957
Samples
Known GenesSLC25A30
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6248997
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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