A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3489426



Internal ID19077067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196737547..196792960hg38UCSC Ensembl
Innerchr1:196706677..196762090hg19UCSC Ensembl
Innerchr1:194973300..195028713hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3855414
hg1955414
hg1855414
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009750
Supporting Variants
Samples
Known GenesCFH, CFHR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3489426
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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