A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6480639



Internal ID21138192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45413786..45431604hg38UCSC Ensembl
chr13:45987921..46005739hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3817819
hg1917819
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18009800
Samples
Known GenesSLC25A30
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6480639
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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