A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6493446



Internal ID21150999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:47044312..47044760hg38UCSC Ensembl
chr14:47513515..47513963hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38449
hg19449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18019261
Samples
Known GenesMDGA2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6493446
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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