A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014771



Internal ID19103988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196741937..196855458hg38UCSC Ensembl
Innerchr1:196711067..196824588hg19UCSC Ensembl
Innerchr1:194977690..195091211hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38113522
hg19113522
hg18113522
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv504n100
Supporting Variantsnssv3491139, nssv3493965, nssv3483739
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)nsv1014771
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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