A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12870



Internal ID15497129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:128608789..128618687hg38UCSC Ensembl
Outerchr3:128607714..128619989hg38UCSC Ensembl
Innerchr3:128327632..128337530hg19UCSC Ensembl
Outerchr3:128326557..128338832hg19UCSC Ensembl
Innerchr3:129810322..129820220hg18UCSC Ensembl
Outerchr3:129809247..129821522hg18UCSC Ensembl
Innerchr3:129810330..129820228hg17UCSC Ensembl
Outerchr3:129809255..129821530hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3812276
hg1912276
hg1812276
hg1712276
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10319
Supporting Variants
SamplesNA19221
Known GenesRPN1
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)nssv12870
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer