A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3495544



Internal ID19083185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196830146..196913266hg38UCSC Ensembl
Innerchr1:196799276..196882396hg19UCSC Ensembl
Innerchr1:195065899..195149019hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3883121
hg1983121
hg1883121
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1012345
Supporting Variants
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)nssv3495544
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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