A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003237



Internal ID19092455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196820420..196940503hg38UCSC Ensembl
Innerchr1:196789550..196909633hg19UCSC Ensembl
Innerchr1:195056173..195176256hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38120084
hg19120084
hg18120084
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv539n100
Supporting Variantsnssv3705439
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)nsv1003237
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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