A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548826



Internal ID16336235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196810758..196964115hg38UCSC Ensembl
Innerchr1:196779888..196933245hg19UCSC Ensembl
Innerchr1:195046511..195199868hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38153358
hg19153358
hg18153358
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv748n54
Supporting Variantsnssv734043
Samples
Known GenesCFHR1, CFHR2, CFHR4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548826
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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