A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14402



Internal ID15480618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:89011204..89011606hg38UCSC Ensembl
Outerchr1:89010766..89012097hg38UCSC Ensembl
Innerchr1:89476887..89477289hg19UCSC Ensembl
Outerchr1:89476449..89477780hg19UCSC Ensembl
Innerchr1:89249475..89249877hg18UCSC Ensembl
Outerchr1:89249037..89250368hg18UCSC Ensembl
Innerchr1:89188908..89189310hg17UCSC Ensembl
Outerchr1:89188470..89189801hg17UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg381332
hg191332
hg181332
hg171332
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10361
Supporting Variants
SamplesNA07029
Known GenesGBP3
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)nssv14402
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