A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6049153



Internal ID21958387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45637522..45637522hg38UCSC Ensembl
chr1:46103194..46103194hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17518099
Samples
Known GenesGPBP1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6049153
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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