A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17387518



Internal ID22445388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84797470..84899016hg38UCSC Ensembl
chr16:84831076..84932622hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38101547
hg19101547
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5927780
Supporting Variants
Samples
Known GenesCRISPLD2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17387518
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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