A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218973



Internal ID22364141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:142119201..142137900hg38UCSC Ensembl
chr8:143200562..143219261hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3818700
hg1918700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14343522, nssv14343529, nssv14343528, nssv14343525, nssv14343524, nssv14343527, nssv14343526, nssv14343523, nssv14343530
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218973
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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