A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014561



Internal ID19103779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196769481..196832663hg38UCSC Ensembl
Innerchr1:196738611..196801793hg19UCSC Ensembl
Innerchr1:195005234..195068416hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3863183
hg1963183
hg1863183
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv524n100
Supporting Variantsnssv3490209, nssv3494055, nssv3492838, nssv3487539, nssv3703455, nssv3703454, nssv3501763, nssv3491557, nssv3495288, nssv3488987, nssv3500857, nssv3490770, nssv3491665, nssv3497935, nssv3482977, nssv3500108, nssv3493411
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)nsv1014561
Frequency
Sample Size11257
Observed Gain5
Observed Loss12
Observed Complex0
Frequencyn/a


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