A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011814



Internal ID19101032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196769481..196912470hg38UCSC Ensembl
Innerchr1:196738611..196881600hg19UCSC Ensembl
Innerchr1:195005234..195148223hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38142990
hg19142990
hg18142990
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv528n100
Supporting Variantsnssv3705392
Samples
Known GenesCFHR1, 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)nsv1011814
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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