A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014500



Internal ID19103718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196740304..196843388hg38UCSC Ensembl
Innerchr1:196709434..196812518hg19UCSC Ensembl
Innerchr1:194976057..195079141hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38103085
hg19103085
hg18103085
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv504n100
Supporting Variantsnssv3497732
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)nsv1014500
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