A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10639



Internal ID15498916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:111126227..111244431hg38UCSC Ensembl
Outerchr1:111668849..111787053hg19UCSC Ensembl
Outerchr1:111470372..111588576hg18UCSC Ensembl
Outerchr1:111380891..111499095hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38118205
hg19118205
hg18118205
hg17118205
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16756
SamplesNA18552
Known GenesCEPT1, CHI3L2, DENND2D, DRAM2
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)nsv10639
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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