A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013426



Internal ID19102644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196788663..196843388hg38UCSC Ensembl
Innerchr1:196757793..196812518hg19UCSC Ensembl
Innerchr1:195024416..195079141hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3854726
hg1954726
hg1854726
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv536n100
Supporting Variantsnssv3482775, nssv3705433, nssv3483691, nssv3491104, nssv3489423, nssv3488608, nssv3498230, nssv3499806, nssv3494090, nssv3494589
Samples
Known GenesCFHR1, CFHR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013426
Frequency
Sample Size11257
Observed Gain9
Observed Loss1
Observed Complex0
Frequencyn/a


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