A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17590200



Internal ID21782243
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 StatusS
Merged Variantsnsv6001583
Supporting Variants
Samples
Known GenesFAM49B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17590200
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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