A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046712



Internal ID18789243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:10765..130315hg38UCSC Ensembl
Innerchr16:60765..180314hg19UCSC Ensembl
Innerchr16:765..120314hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38119551
hg19119550
hg18119550
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2689n100
Supporting Variantsnssv3556934
Samples
Known GenesDDX11L10, LOC100288778, MIR6859-1, MIR6859-2, MPG, 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)nsv1046712
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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