A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3526504



Internal ID22395884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224195599..224195876hg38UCSC Ensembl
chr1:224383301..224383578hg19UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv573n152
Supporting Variantsnssv14309819, nssv14309818, nssv14309821, nssv14309823, nssv14309817, nssv14309820, nssv14309822
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3526504
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