A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6059947



Internal ID21969180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197125744..197125744hg38UCSC Ensembl
chr1:197094874..197094874hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17520072
Samples
Known GenesASPM
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6059947
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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