A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4753085



Internal ID20528945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220057804..220057804hg38UCSC Ensembl
chr1:220231146..220231146hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16296539
Samples
Known GenesBPNT1, RNU5F-1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4753085
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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