A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1418876



Internal ID15235930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:52487203..52706453hg38UCSC Ensembl
Innerchr13:53061338..53280588hg19UCSC Ensembl
Innerchr13:51959339..52178589hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38219251
hg19219251
hg18219251
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv820041
Supporting Variants
SamplesAK1
Known GenesHNRNPA1L2, LECT1, SUGT1, TPTE2P3
MethodSNP array
AnalysisNormalized bead intensity data and genotype calls were obtained with Illumina BeadStudio 3.1 software. Copy number variants (CNVs) were detected on the basis of deflected log R ratios.
PlatformGPL8887
Comments
ReferenceKim_et_al_2009
Pubmed ID19587683
Accession Number(s)nssv1418876
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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