A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008827



Internal ID19098045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196772225..196870033hg38UCSC Ensembl
Innerchr1:196741355..196839163hg19UCSC Ensembl
Innerchr1:195007978..195105786hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3897809
hg1997809
hg1897809
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3502278
Samples
Known GenesCFHR1, CFHR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008827
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