A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044846



Internal ID18787377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18666777..18820585hg38UCSC Ensembl
Innerchr16:18678099..18831907hg19UCSC Ensembl
Innerchr16:18585600..18739408hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38153809
hg19153809
hg18153809
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3542767
Samples
Known GenesARL6IP1, RPS15A, SMG1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044846
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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