A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6483846



Internal ID21141399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:46342924..47337793hg38UCSC Ensembl
chr14:46812127..47806996hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38994870
hg19994870
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18193425
Samples
Known GenesLINC00871, MDGA2, RPL10L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6483846
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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