A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1419468



Internal ID15583252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:76866037..76868748hg38UCSC Ensembl
Innerchr1:77331722..77334433hg19UCSC Ensembl
Innerchr1:77104310..77107021hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg382712
hg192712
hg182712
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv820187
Supporting Variants
SamplesAK1
Known GenesST6GALNAC5
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)nssv1419468
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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