A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6494043



Internal ID21151596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77503474..77519521hg38UCSC Ensembl
chr14:77969817..77985864hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3816048
hg1916048
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18180116
Samples
Known GenesSPTLC2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6494043
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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