A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968320



Internal ID22743256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4236518..4236518hg38UCSC Ensembl
chr19:4236515..4236515hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38232
hg19232
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17400341
Samples
Known GenesEBI3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5968320
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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