A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3705459



Internal ID19003740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196829563..196916555hg38UCSC Ensembl
Innerchr1:196798693..196885685hg19UCSC Ensembl
Innerchr1:195065316..195152308hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3886993
hg1986993
hg1886993
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1004826
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)nssv3705459
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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