A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4768193



Internal ID20544053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56635282..56635282hg38UCSC Ensembl
chr1:57100955..57100955hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg381953
hg191953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16281292
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4768193
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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