A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16896048



Internal ID171514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:209976587..209992587hg38UCSC Ensembl
chr1:210149932..210165932hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3816001
hg1916001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5451864
Supporting Variants
Samples
Known GenesSYT14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16896048
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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