A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003055



Internal ID19092272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196770830..196847588hg38UCSC Ensembl
Innerchr1:196739960..196816718hg19UCSC Ensembl
Innerchr1:195006583..195083341hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3876759
hg1976759
hg1876759
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv532n100
Supporting Variantsnssv3488633, nssv3483354, nssv3497013
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)nsv1003055
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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