A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6493764



Internal ID21151317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64421749..64423852hg38UCSC Ensembl
chr14:64888467..64890570hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg382104
hg192104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18020691
Samples
Known GenesMIR548AZ, MTHFD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6493764
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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