A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006453



Internal ID19095670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196741937..196884377hg38UCSC Ensembl
Innerchr1:196711067..196853507hg19UCSC Ensembl
Innerchr1:194977690..195120130hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38142441
hg19142441
hg18142441
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv504n100
Supporting Variantsnssv3486960
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)nsv1006453
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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