A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6488595



Internal ID21146148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:47172039..47174458hg38UCSC Ensembl
chr14:47641242..47643661hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg382420
hg192420
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18019275
Samples
Known GenesMDGA2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6488595
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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