A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10070



Internal ID15498347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:87824674..87962085hg38UCSC Ensembl
Outerchr2:88124193..88261604hg19UCSC Ensembl
Outerchr2:87905308..88042719hg18UCSC Ensembl
Outerchr2:87963455..88100866hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38137412
hg19137412
hg18137412
hg17137412
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27022, nssv27143, nssv29060, nssv28261, nssv28152, nssv28901, nssv28477, nssv27403, nssv27633, nssv25446, nssv27394, nssv27146
SamplesNA11830, NA12802, NA18942, NA18975, NA10863, NA18537, NA18517, NA18564, NA19240, NA12740, NA18972, NA18552
Known GenesRGPD1, RGPD2
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)nsv10070
Frequency
Sample Size31
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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