A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012773



Internal ID19101990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196771830..196917640hg38UCSC Ensembl
Innerchr1:196740960..196886770hg19UCSC Ensembl
Innerchr1:195007583..195153393hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38145811
hg19145811
hg18145811
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv528n100
Supporting Variantsnssv3492998
Samples
Known GenesCFHR1, CFHR3, CFHR4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012773
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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