A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28549



Internal ID15491175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12835552..12863101hg38UCSC Ensembl
Outerchr1:12834462..12866396hg38UCSC Ensembl
Innerchr1:12895403..12922956hg19UCSC Ensembl
Outerchr1:12894313..12926251hg19UCSC Ensembl
Innerchr1:12817990..12845543hg18UCSC Ensembl
Outerchr1:12816900..12848838hg18UCSC Ensembl
Innerchr1:12829669..12857222hg17UCSC Ensembl
Outerchr1:12828579..12860517hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3831935
hg1931939
hg1831939
hg1731939
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA18853
Known GenesHNRNPCL1, LOC649330, PRAMEF2
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)nssv28549
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