A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004428



Internal ID19093646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196820420..196926705hg38UCSC Ensembl
Innerchr1:196789550..196895835hg19UCSC Ensembl
Innerchr1:195056173..195162458hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38106286
hg19106286
hg18106286
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv544n100
Supporting Variantsnssv3488379
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)nsv1004428
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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