A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005490



Internal ID19094707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196814484..196947229hg38UCSC Ensembl
Innerchr1:196783614..196916359hg19UCSC Ensembl
Innerchr1:195050237..195182982hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38132746
hg19132746
hg18132746
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv539n100
Supporting Variantsnssv3490707
Samples
Known GenesCFHR1, CFHR2, CFHR4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005490
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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