A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225663



Internal ID22368725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:49133582..49134622hg38UCSC Ensembl
chr8:50046141..50047181hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg381041
hg191041
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14341811
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225663
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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