A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8639



Internal ID15846551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:48177002..48181530hg38UCSC Ensembl
Outerchr10:49385045..49389573hg19UCSC Ensembl
Outerchr10:49055051..49059579hg18UCSC Ensembl
Outerchr10:49055051..49059579hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg384529
hg194529
hg184529
hg174529
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv21704, nssv18856
SamplesNA18517, NA18552
Known GenesFRMPD2
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)nsv8639
Frequency
Sample Size31
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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