A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6040969



Internal ID21950307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43593626..43593626hg38UCSC Ensembl
chr1:44059297..44059297hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38474
hg19474
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17519033
Samples
Known GenesPTPRF
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6040969
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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