A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17385209



Internal ID22443079
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 StatusS
Merged Variantsnsv5944272
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17385209
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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