A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4757467



Internal ID20533327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:99121447..99121447hg38UCSC Ensembl
chr2:99737910..99737910hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16291485
Samples
Known GenesTSGA10
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4757467
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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