A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012935



Internal ID19102152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196779887..196917640hg38UCSC Ensembl
Innerchr1:196749017..196886770hg19UCSC Ensembl
Innerchr1:195015640..195153393hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38137754
hg19137754
hg18137754
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv511n100
Supporting Variantsnssv3493923
Samples
Known GenesCFHR1, CFHR3, CFHR4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012935
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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