A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006845



Internal ID19096063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196854483..196932623hg38UCSC Ensembl
Innerchr1:196823613..196901753hg19UCSC Ensembl
Innerchr1:195090236..195168376hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3878141
hg1978141
hg1878141
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv553n100
Supporting Variantsnssv3501589, nssv3490582, nssv3485850
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)nsv1006845
Frequency
Sample Size11257
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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