A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16893190



Internal ID169617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:186317408..186317491hg38UCSC Ensembl
chr1:186286540..186286623hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5437587
Supporting Variants
Samples
Known GenesMIR548F1, TPR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16893190
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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