A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6371190



Internal ID21028743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:138441614..138594169hg38UCSC Ensembl
chr3:138160456..138313011hg19UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg38152556
hg19152556
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18093886
Samples
Known GenesCEP70, ESYT3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6371190
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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