A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9258



Internal ID15500484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:314425..861277hg38UCSC Ensembl
Outerchr2:314425..856963hg19UCSC Ensembl
Outerchr2:304425..846963hg18UCSC Ensembl
Outerchr2:304425..846963hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38546853
hg19542539
hg18542539
hg17542539
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23687, nssv27158, nssv26393, nssv26189, nssv23376, nssv24879, nssv27400, nssv23076, nssv28344, nssv26730, nssv22763, nssv26556, nssv24902, nssv26720, nssv26383, nssv27735, nssv28442, nssv26845, nssv27721, nssv24885, nssv27627, nssv23686, nssv26571, nssv27288
SamplesNA18502, NA18980, NA07029, NA18504, NA18563, NA12802, NA18860, NA18942, NA07048, NA10839, NA18975, NA19007, NA12872, NA18853, NA19132, NA18517, NA18564, NA12740, NA18972
Known GenesLINC01115, TMEM18
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)nsv9258
Frequency
Sample Size31
Observed Gain14
Observed Loss9
Observed Complex0
Frequencyn/a


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