A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5952552



Internal ID22727865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100869330..100869330hg38UCSC Ensembl
chr3:100588174..100588174hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17407445
Samples
Known GenesABI3BP
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5952552
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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