A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6072006



Internal ID21981239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:128437646..128437646hg38UCSC Ensembl
chr5:127773339..127773339hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg383890
hg193890
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17539976
Samples
Known GenesFBN2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6072006
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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