A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5954130



Internal ID22729390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:158440304..158440304hg38UCSC Ensembl
chr5:157867312..157867312hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38346
hg19346
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17429229
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5954130
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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