A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007767



Internal ID19096986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196801995..196907989hg38UCSC Ensembl
Innerchr1:196771125..196877119hg19UCSC Ensembl
Innerchr1:195037748..195143742hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38105995
hg19105995
hg18105995
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv541n100
Supporting Variantsnssv3493768
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)nsv1007767
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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