A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014288



Internal ID19103509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196832014..196940503hg38UCSC Ensembl
Innerchr1:196801144..196909633hg19UCSC Ensembl
Innerchr1:195067767..195176256hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38108490
hg19108490
hg18108490
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv539n100
Supporting Variantsnssv3497534
Samples
Known GenesCFHR1, CFHR4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014288
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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