A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10088



Internal ID15845051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:94762711..94790923hg38UCSC Ensembl
Outerchr2:95428456..95456668hg19UCSC Ensembl
Outerchr2:94792183..94820395hg18UCSC Ensembl
Outerchr2:94850330..94878542hg17UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3828213
hg1928213
hg1828213
hg1728213
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28467, nssv28526, nssv11490, nssv27833, nssv29150
SamplesNA12155, NA19221, NA19132, NA18972, NA18552
Known GenesANKRD20A8P
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)nsv10088
Frequency
Sample Size31
Observed Gain3
Observed Loss2
Observed Complex0
Frequencyn/a


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