A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6001583



Internal ID21910926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130004048..130004226hg38UCSC Ensembl
chr8:131016294..131016472hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17590200
Samples
Known GenesFAM49B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6001583
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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