A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013557



Internal ID19102775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196854175..196926705hg38UCSC Ensembl
Innerchr1:196823305..196895835hg19UCSC Ensembl
Innerchr1:195089928..195162458hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3872531
hg1972531
hg1872531
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv553n100
Supporting Variantsnssv3490603, nssv3486181, nssv3705478, nssv3496959, nssv3496064, nssv3496727, nssv3489749, nssv3484518, nssv3499302, nssv3498896, nssv3490974
Samples
Known GenesCFHR4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013557
Frequency
Sample Size11257
Observed Gain1
Observed Loss10
Observed Complex0
Frequencyn/a


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