A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5951323



Internal ID22726688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32228604..32228604hg38UCSC Ensembl
chr5:32228710..32228710hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17422594
Samples
Known GenesMTMR12
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5951323
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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