A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5914019



Internal ID22689235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:48779222..48844524hg38UCSC Ensembl
chr7:48818818..48884120hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg3865303
hg1965303
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17432683
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5914019
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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