A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16906546



Internal ID5153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:101296858..101297001hg38UCSC Ensembl
chr1:101762414..101762557hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5417830
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16906546
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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