A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1653n100



Internal ID20153269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52564997..52728939hg38UCSC Ensembl
chr13:53139132..53303074hg19UCSC Ensembl
chr13:52037133..52201075hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38163943
hg19163943
hg18163943
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1044051, nsv1038942, nsv1039911
Samples
Known GenesHNRNPA1L2, LECT1, SUGT1, TPTE2P3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1653n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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