A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3530058



Internal ID22399449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:152972827..152972912hg38UCSC Ensembl
chr6:153293962..153294047hg19UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14331398, nssv14331400, nssv14331399
SamplesHG00731, HG00732, HG00733
Known GenesFBXO5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3530058
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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