A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3487347



Internal ID19074988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196814484..196940503hg38UCSC Ensembl
Innerchr1:196783614..196909633hg19UCSC Ensembl
Innerchr1:195050237..195176256hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38126020
hg19126020
hg18126020
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009483
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)nssv3487347
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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