A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6478637



Internal ID21136190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52480261..52527232hg38UCSC Ensembl
chr13:53054396..53101367hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3846972
hg1946972
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18179902
Samples
Known GenesTPTE2P3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6478637
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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