A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17384714



Internal ID22442584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50750765..50751532hg38UCSC Ensembl
chr17:48828126..48828893hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38768
hg19768
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5937964
Supporting Variants
Samples
Known GenesLUC7L3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17384714
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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