A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005364



Internal ID19094581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196741937..196820733hg38UCSC Ensembl
Innerchr1:196711067..196789863hg19UCSC Ensembl
Innerchr1:194977690..195056486hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3878797
hg1978797
hg1878797
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv505n100
Supporting Variantsnssv3502107, nssv3483058, nssv3485574
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)nsv1005364
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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