A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5890934



Internal ID22665965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:145526563..145527916hg38UCSC Ensembl
chr4:146447715..146449068hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg381354
hg191354
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17421317
Samples
Known GenesSMAD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5890934
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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