A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6495374



Internal ID21152927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:55047701..55053100hg38UCSC Ensembl
chr14:55514419..55519818hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg385400
hg195400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18182257
Samples
Known GenesMAPK1IP1L, SOCS4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6495374
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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