A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16906530



Internal ID5143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:96472055..96490222hg38UCSC Ensembl
chr1:96937611..96955778hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3818168
hg1918168
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5422340
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16906530
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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