A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3484317



Internal ID19071958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196787999..196832513hg38UCSC Ensembl
Innerchr1:196757129..196801643hg19UCSC Ensembl
Innerchr1:195023752..195068266hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3844515
hg1944515
hg1844515
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1012871
Supporting Variants
Samples
Known GenesCFHR1, CFHR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3484317
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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