A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6056339



Internal ID21965572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:94023209..94023209hg38UCSC Ensembl
chr1:94488765..94488765hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17517725
Samples
Known GenesABCA4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6056339
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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