A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999426



Internal ID19158963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196814484..196847588hg38UCSC Ensembl
Innerchr1:196783614..196816718hg19UCSC Ensembl
Innerchr1:195050237..195083341hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3833105
hg1933105
hg1833105
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv542n100
Supporting Variantsnssv3492053, nssv3496854, nssv3499103
Samples
Known GenesCFHR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999426
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