A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9716



Internal ID15500942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:36349348..36360275hg38UCSC Ensembl
Outerchr19:36840250..36851177hg19UCSC Ensembl
Outerchr19:41532090..41543017hg18UCSC Ensembl
Outerchr19:41532090..41543017hg17UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3810928
hg1910928
hg1810928
hg1710928
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv24213, nssv25135, nssv23753, nssv27544, nssv25127, nssv27773, nssv22030
SamplesNA12802, NA18975, NA10839, NA18972, NA18860, NA18942, NA19007
Known GenesZFP14
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)nsv9716
Frequency
Sample Size31
Observed Gain6
Observed Loss1
Observed Complex0
Frequencyn/a


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