A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17441972



Internal ID22499842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:81575515..81587330hg38UCSC Ensembl
chr9:84190430..84202245hg19UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg3811816
hg1911816
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5908411
Supporting Variants
Samples
Known GenesTLE1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17441972
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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