A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1037494



Internal ID18780025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35815..151390hg38UCSC Ensembl
Innerchr16:85815..201389hg19UCSC Ensembl
Innerchr16:25815..141389hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38115576
hg19115575
hg18115575
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2689n100
Supporting Variantsnssv3556941
Samples
Known GenesMPG, NPRL3, POLR3K, RHBDF1, SNRNP25
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1037494
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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