A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524868



Internal ID22394304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223031357..223031436hg38UCSC Ensembl
chr1:223204699..223204778hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14309596, nssv14309591, nssv14309597, nssv14309594, nssv14309595, nssv14309592, nssv14309593
SamplesHG00512, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3524868
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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