A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004879



Internal ID19094096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196769481..196947657hg38UCSC Ensembl
Innerchr1:196738611..196916787hg19UCSC Ensembl
Innerchr1:195005234..195183410hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38178177
hg19178177
hg18178177
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv511n100
Supporting Variantsnssv3489248
Samples
Known GenesCFHR1, CFHR2, 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)nsv1004879
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer