A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3557104



Internal ID18508699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:8528343..8810411hg38UCSC Ensembl
Innerchr16:8578345..8904268hg19UCSC Ensembl
Innerchr16:8518346..8811769hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38282069
hg19325924
hg18293424
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1047172
Supporting Variants
Samples
Known GenesABAT, METTL22, PMM2, TMEM114, TMEM186
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3557104
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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