A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16891129



Internal ID168268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150014293..150024850hg38UCSC Ensembl
chr1:149986247..149996808hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3810558
hg1910562
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5433501
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16891129
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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