A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6484083



Internal ID21141636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:49916668..50052546hg38UCSC Ensembl
chr14:50383386..50519264hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38135879
hg19135879
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18195208
Samples
Known GenesC14orf182, LOC100506499, MIR6076
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6484083
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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