A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216616



Internal ID22362556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29588958..29590680hg38UCSC Ensembl
chr13:30163095..30164817hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg381723
hg191723
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14367925, nssv14367929, nssv14367924, nssv14367930, nssv14367932, nssv14367926, nssv14367928, nssv14367931, nssv14367927
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSLC7A1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216616
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