A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5961110



Internal ID22736070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:172690951..172690951hg38UCSC Ensembl
chr3:172408741..172408741hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38386
hg19386
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17423361
Samples
Known GenesNCEH1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5961110
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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