A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9946



Internal ID15847858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:61536414..61538301hg38UCSC Ensembl
Outerchr2:61763549..61765436hg19UCSC Ensembl
Outerchr2:61617053..61618940hg18UCSC Ensembl
Outerchr2:61675200..61677087hg17UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg381888
hg191888
hg181888
hg171888
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26712, nssv28193, nssv26390, nssv25715, nssv28781, nssv27399, nssv26709, nssv26181, nssv28134, nssv24299, nssv27269, nssv25945, nssv27734, nssv26706, nssv28448, nssv25167
SamplesNA18502, NA07029, NA18504, NA18563, NA07048, NA10839, NA10847, NA10863, NA12872, NA18572, NA18853, NA18517, NA19144, NA12740, NA19173, NA18552
Known GenesXPO1
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)nsv9946
Frequency
Sample Size31
Observed Gain15
Observed Loss1
Observed Complex0
Frequencyn/a


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