A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039911



Internal ID18782442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:52564997..52728939hg38UCSC Ensembl
Innerchr13:53139132..53303074hg19UCSC Ensembl
Innerchr13:52037133..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 Variantsdgv1653n100
Supporting Variantsnssv3523473, nssv3523472
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)nsv1039911
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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