A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6480640



Internal ID21138193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70092421..70093776hg38UCSC Ensembl
chr14:70559138..70560493hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg381356
hg191356
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18021237
Samples
Known GenesSLC8A3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6480640
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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