A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6484147



Internal ID21141700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:51254139..51406132hg38UCSC Ensembl
chr13:51828275..51980268hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38151994
hg19151994
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18178771
Samples
Known GenesFAM124A, INTS6, MIR5693, SERPINE3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6484147
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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