A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3501475



Internal ID19089116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196745680..196792924hg38UCSC Ensembl
Innerchr1:196714810..196762054hg19UCSC Ensembl
Innerchr1:194981433..195028677hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3847245
hg1947245
hg1847245
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1002459
Supporting Variants
Samples
Known GenesCFH, CFHR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3501475
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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