A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997398



Internal ID19120515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196745680..196821901hg38UCSC Ensembl
Innerchr1:196714810..196791031hg19UCSC Ensembl
Innerchr1:194981433..195057654hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3876222
hg1976222
hg1876222
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv505n100
Supporting Variantsnssv3484020
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)nsv997398
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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