A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3486587



Internal ID19074228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196745731..196847588hg38UCSC Ensembl
Innerchr1:196714861..196816718hg19UCSC Ensembl
Innerchr1:194981484..195083341hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38101858
hg19101858
hg18101858
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1006109
Supporting Variants
Samples
Known GenesCFH, CFHR1, CFHR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3486587
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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