A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16901548



Internal ID1836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40457108..40457254hg38UCSC Ensembl
chr1:40922780..40922926hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5428894
Supporting Variants
Samples
Known GenesZFP69B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16901548
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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