A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6471214



Internal ID21128767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117669034..117670341hg38UCSC Ensembl
chr11:117539749..117541056hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381308
hg191308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17987165
Samples
Known GenesDSCAML1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6471214
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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