A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4753250



Internal ID20529110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:201211002..201211002hg38UCSC Ensembl
chr1:201180130..201180130hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38210
hg19210
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16281806
Samples
Known GenesIGFN1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4753250
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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