A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221285



Internal ID22365720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:55722260..55722340hg38UCSC Ensembl
chr8:56634819..56634899hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14342612, nssv14342613, nssv14342614, nssv14342611
SamplesNA19239, NA19240, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221285
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer