A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6487218



Internal ID21144771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54437701..54443500hg38UCSC Ensembl
chr14:54904419..54910218hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg385800
hg195800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18185961
Samples
Known GenesCNIH1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6487218
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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