A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3548121



Internal ID18499716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21522983..21759413hg38UCSC Ensembl
Innerchr16:21534304..21770734hg19UCSC Ensembl
Innerchr16:21441805..21678235hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38236431
hg19236431
hg18236431
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1036853
Supporting Variants
Samples
Known GenesIGSF6, METTL9, OTOA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3548121
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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