A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6502132



Internal ID20875374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:105247101..105250100hg38UCSC Ensembl
chr14:105713438..105716437hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg383000
hg193000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18195757
Samples
Known GenesBRF1, BTBD6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6502132
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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