A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001242



Internal ID19090459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196741937..196876526hg38UCSC Ensembl
Innerchr1:196711067..196845656hg19UCSC Ensembl
Innerchr1:194977690..195112279hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38134590
hg19134590
hg18134590
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv504n100
Supporting Variantsnssv3484449
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)nsv1001242
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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