A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944272



Internal ID22719734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:114186464..114228523hg38UCSC Ensembl
chr13:114951939..114993998hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3842060
hg1942060
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17385209
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944272
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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