A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4753680



Internal ID20529540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93876117..93876117hg38UCSC Ensembl
chr1:94341673..94341673hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg382457
hg192457
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16285384
Samples
Known GenesDNTTIP2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4753680
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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