A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3487337



Internal ID18728292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248586247..248647345hg38UCSC Ensembl
Innerchr1:248749548..248810646hg19UCSC Ensembl
Innerchr1:246816171..246877269hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3861099
hg1961099
hg1861099
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1003351
Supporting Variants
Samples
Known GenesOR2T10, OR2T11, OR2T35
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3487337
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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