A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1418673



Internal ID15235727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:18183343..18201465hg38UCSC Ensembl
Innerchr19:18294153..18312275hg19UCSC Ensembl
Innerchr19:18155153..18173275hg18UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3818123
hg1918123
hg1818123
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv819691
Supporting Variants
SamplesAK1
Known GenesMPV17L2, RAB3A
MethodOligo aCGH
AnalysisThe array was scanned with Agilent DNA microarray scanner at 2 micron resolution. The resulting image was extracted by Agilent's Feature Extraction software. The log2 ratios were analyzed using NEXUS software. Each aberration call was manually checked to confirm the accuracy of the calls.
PlatformGSE19651
Comments
ReferenceKim_et_al_2009
Pubmed ID19587683
Accession Number(s)nssv1418673
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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