A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6048072



Internal ID21957305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21171622..21171622hg38UCSC Ensembl
chr1:21498115..21498115hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17533128
Samples
Known GenesEIF4G3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6048072
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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