A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005246



Internal ID19094463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196741937..196832708hg38UCSC Ensembl
Innerchr1:196711067..196801838hg19UCSC Ensembl
Innerchr1:194977690..195068461hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3890772
hg1990772
hg1890772
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv505n100
Supporting Variantsnssv3487749, nssv3501964, nssv3489069
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)nsv1005246
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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