A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9121



Internal ID15847033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:20873744..20958490hg38UCSC Ensembl
Outerchr14:21341903..21426649hg19UCSC Ensembl
Outerchr14:20411743..20496489hg18UCSC Ensembl
Outerchr14:20411743..20496489hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3884747
hg1984747
hg1884747
hg1784747
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26680, nssv25098, nssv25123, nssv22795, nssv22736, nssv23924
SamplesNA18860, NA19221, NA19240, NA19144
Known GenesECRP, RNASE2, RNASE3
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)nsv9121
Frequency
Sample Size31
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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