A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6048844



Internal ID21958079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152154735..152154735hg38UCSC Ensembl
chr1:152127211..152127211hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17520944
Samples
Known GenesRPTN
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6048844
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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