A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6480166



Internal ID21137719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:19117270..19233971hg38UCSC Ensembl
chr13:19691410..19808111hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38116702
hg19116702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18185935
Samples
Known GenesRNU6-52P, TUBA3C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6480166
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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