A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5956439



Internal ID22731625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:67486952..67486952hg38UCSC Ensembl
chr5:66782780..66782780hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17411886
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5956439
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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