A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044051



Internal ID18786582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:52564997..52712888hg38UCSC Ensembl
Innerchr13:53139132..53287023hg19UCSC Ensembl
Innerchr13:52037133..52185024hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38147892
hg19147892
hg18147892
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1653n100
Supporting Variantsnssv3523470
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)nsv1044051
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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