A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6505246



Internal ID20878513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:99888418..99952610hg38UCSC Ensembl
chr14:100354755..100418947hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3864193
hg1964193
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18188447
Samples
Known GenesEML1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6505246
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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