A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16983705



Internal ID56514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:39110181..39110327hg38UCSC Ensembl
chr6:39077957..39078103hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5464481
Supporting Variants
Samples
Known GenesSAYSD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16983705
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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