A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049990



Internal ID18792521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21574471..21731799hg38UCSC Ensembl
Innerchr16:21585792..21743120hg19UCSC Ensembl
Innerchr16:21493293..21650621hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38157329
hg19157329
hg18157329
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2808n100
Supporting Variantsnssv3719307, nssv3548138
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)nsv1049990
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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