A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17371371



Internal ID22597040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:59389079..59436689hg38UCSC Ensembl
chr13:59963213..60010823hg19UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg3847611
hg1947611
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5943480
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17371371
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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