A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6032717



Internal ID21942060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45402062..45403949hg38UCSC Ensembl
chr13:45976197..45978084hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg381888
hg191888
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17601718
Samples
Known GenesSLC25A30
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6032717
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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