A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4764771



Internal ID20540631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233383395..233383395hg38UCSC Ensembl
chr1:233519141..233519141hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16291907
Samples
Known GenesKIAA1804
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4764771
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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