A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6493231



Internal ID21150784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:59481301..59487100hg38UCSC Ensembl
chr14:59948019..59953818hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg385800
hg195800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18178697
Samples
Known GenesJKAMP, L3HYPDH
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6493231
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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