A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008478



Internal ID19097696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196740304..196814484hg38UCSC Ensembl
Innerchr1:196709434..196783614hg19UCSC Ensembl
Innerchr1:194976057..195050237hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3874181
hg1974181
hg1874181
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv507n100
Supporting Variantsnssv3491703, nssv3492987
Samples
Known GenesCFH, CFHR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008478
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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