A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3497518



Internal ID19085159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196735867..196832930hg38UCSC Ensembl
Innerchr1:196704997..196802060hg19UCSC Ensembl
Innerchr1:194971620..195068683hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3897064
hg1997064
hg1897064
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv999039
Supporting Variants
Samples
Known GenesCFH, CFHR1, CFHR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3497518
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