A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5980625



Internal ID21889968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103561098..103676921hg38UCSC Ensembl
chr1:104103720..104219543hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38115824
hg19115824
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17529710
Samples
Known GenesACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5980625
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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