A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9191



Internal ID15500417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248574482..248632893hg38UCSC Ensembl
Outerchr1:248737783..248796194hg19UCSC Ensembl
Outerchr1:246804406..246862817hg18UCSC Ensembl
Outerchr1:245063824..245122235hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3858412
hg1958412
hg1858412
hg1758412
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv22108, nssv24277, nssv26724, nssv28144, nssv28409, nssv28360, nssv26575, nssv21778, nssv25707, nssv25448, nssv25175, nssv27020
SamplesNA18502, NA18504, NA18860, NA10863, NA18572, NA19221, NA18517, NA19240, NA19144
Known GenesOR2T10, OR2T11, OR2T34
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)nsv9191
Frequency
Sample Size31
Observed Gain1
Observed Loss9
Observed Complex0
Frequencyn/a


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