A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013124



Internal ID19102342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196741937..196830572hg38UCSC Ensembl
Innerchr1:196711067..196799702hg19UCSC Ensembl
Innerchr1:194977690..195066325hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3888636
hg1988636
hg1888636
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv505n100
Supporting Variantsnssv3496641
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)nsv1013124
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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