A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6339940



Internal ID20997493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:221459309..221459562hg38UCSC Ensembl
chr2:222324029..222324282hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18086275
Samples
Known GenesEPHA4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6339940
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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