A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6494494



Internal ID21152047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:69503474..69653433hg38UCSC Ensembl
chr14:69970191..70120150hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg38149960
hg19149960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18020599
Samples
Known GenesCCDC177, KIAA0247, PLEKHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6494494
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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