A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5981745



Internal ID21891088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169376134..169416008hg38UCSC Ensembl
chr1:169345372..169385246hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3839875
hg1939875
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17537053
Samples
Known GenesBLZF1, CCDC181
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5981745
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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