A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226238



Internal ID22369107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:143359410..143360611hg38UCSC Ensembl
chr7:143056503..143057704hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg381202
hg191202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14337747, nssv14337749, nssv14337750, nssv14337748, nssv14337752, nssv14337754, nssv14337753, nssv14337746, nssv14337751
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesFAM131B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226238
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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