A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9691



Internal ID15847603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:44238797..44242909hg38UCSC Ensembl
Outerchr2:44465936..44470048hg19UCSC Ensembl
Outerchr2:44319440..44323552hg18UCSC Ensembl
Outerchr2:44377587..44381699hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg384113
hg194113
hg184113
hg174113
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26378, nssv24892, nssv27999, nssv27139, nssv25949, nssv27161, nssv24881, nssv24296
SamplesNA11830, NA18980, NA07029, NA10839, NA18975, NA10847, NA12740, 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)nsv9691
Frequency
Sample Size31
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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