A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6435429



Internal ID21092982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11925984..12031036hg38UCSC Ensembl
chr8:11783493..11888545hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38105053
hg19105053
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18164162
Samples
Known GenesDEFB134, DEFB135, DEFB136
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6435429
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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