A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6063901



Internal ID21973134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:129947392..129947392hg38UCSC Ensembl
chr8:130959638..130959638hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38285
hg19285
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17581660
Samples
Known GenesFAM49B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6063901
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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