A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18188147



Internal ID20755187
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 StatusS
Merged Variantsnsv6482975
Supporting Variants
Samples
Known GenesBAZ1A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18188147
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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