A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047721



Internal ID19136940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:9233787..9278036hg38UCSC Ensembl
Innerchr16:9327644..9371893hg19UCSC Ensembl
Innerchr16:9235145..9279394hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3844250
hg1944250
hg1844250
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3557120
Samples
Known GenesMIR548X
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047721
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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