A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10406



Internal ID15845369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:99975576..99978671hg38UCSC Ensembl
Outerchr1:100441132..100444227hg19UCSC Ensembl
Outerchr1:100213720..100216815hg18UCSC Ensembl
Outerchr1:100153153..100156248hg17UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg383096
hg193096
hg183096
hg173096
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17759, nssv15440, nssv16431
SamplesNA18860, NA18853, NA19173
Known GenesSLC35A3
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv10406
Frequency
Sample Size31
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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