A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6478386



Internal ID21135939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:50014001..50018600hg38UCSC Ensembl
chr13:50588137..50592736hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg384600
hg194600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18009463
Samples
Known GenesDLEU2, KCNRG, TRIM13
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6478386
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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