A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6482975



Internal ID21140528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:34730933..34811230hg38UCSC Ensembl
chr14:35200139..35280436hg19UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg3880298
hg1980298
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18188147
Samples
Known GenesBAZ1A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6482975
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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