A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3549206



Internal ID18847487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32022053..32289602hg38UCSC Ensembl
Innerchr16:32033374..32300923hg19UCSC Ensembl
Innerchr16:31940875..32208424hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38267550
hg19267550
hg18267550
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1066514
Supporting Variants
Samples
Known GenesHERC2P4, LOC390705, TP53TG3D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3549206
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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