A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10104



Internal ID15498381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:97723809..97728689hg38UCSC Ensembl
Outerchr2:98340272..98345152hg19UCSC Ensembl
Outerchr2:97706704..97711584hg18UCSC Ensembl
Outerchr2:97798790..97803670hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg384881
hg194881
hg184881
hg174881
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28676
SamplesNA19132
Known GenesZAP70
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)nsv10104
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