A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5964392



Internal ID22739327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197547091..197547091hg38UCSC Ensembl
chr2:198411815..198411815hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17397193
Samples
Known GenesHSPE1-MOB4, MOB4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5964392
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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