A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6430305



Internal ID21087858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27494547..27499720hg38UCSC Ensembl
chr8:27352064..27357237hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg385174
hg195174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18166114
Samples
Known GenesEPHX2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6430305
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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