A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3486942



Internal ID19074583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196847588..196970577hg38UCSC Ensembl
Innerchr1:196816718..196939707hg19UCSC Ensembl
Innerchr1:195083341..195206330hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38122990
hg19122990
hg18122990
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1006432
Supporting Variants
Samples
Known GenesCFHR2, CFHR4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3486942
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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