A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8391



Internal ID15499617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152212852..152221607hg38UCSC Ensembl
Outerchr1:152185328..152194083hg19UCSC Ensembl
Outerchr1:150451952..150460707hg18UCSC Ensembl
Outerchr1:148998401..149007156hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg388756
hg198756
hg188756
hg178756
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv21769, nssv21067, nssv25703, nssv19749, nssv20406, nssv24289, nssv20075, nssv22106, nssv23693, nssv20416, nssv22751, nssv20424, nssv21075, nssv21082, nssv22083, nssv27160
SamplesNA11830, NA18504, NA12155, NA18563, NA18942, NA07048, NA18975, NA19007, NA10847, NA10863, NA18572, NA18537, NA18564, NA12740, NA18972, NA18552
Known GenesHRNR
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)nsv8391
Frequency
Sample Size31
Observed Gain15
Observed Loss1
Observed Complex0
Frequencyn/a


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