A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8491



Internal ID15846403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:161440689..161482466hg38UCSC Ensembl
Outerchr1:161410479..161452256hg19UCSC Ensembl
Outerchr1:159677103..159718880hg18UCSC Ensembl
Outerchr1:158223552..158265311hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3841778
hg1941778
hg1841778
hg1741760
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv21071, nssv27632, nssv20101, nssv21421, nssv21777, nssv27522, nssv25713, nssv23388, nssv24563, nssv23379, nssv22432, nssv24273, nssv27740, nssv22429, nssv22111, nssv20741, nssv21781, nssv25454, nssv23979, nssv21766, nssv22434, nssv27840, nssv22760, nssv21774, nssv20761, nssv23678, nssv20411, nssv23078, nssv22104, nssv22762, nssv21401, nssv20431, nssv21091, nssv22441
SamplesNA07029, NA18504, NA18942, NA18975, NA12872, NA18572, NA19132, NA18564, NA19240, NA18972, NA18552
Known Genes
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)nsv8491
Frequency
Sample Size31
Observed Gain4
Observed Loss8
Observed Complex0
Frequencyn/a


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