A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv734030



Internal ID16027986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196801995..196913214hg38UCSC Ensembl
Innerchr1:196771125..196882344hg19UCSC Ensembl
Innerchr1:195037748..195148967hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38111220
hg19111220
hg18111220
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548814
Supporting Variants
Samples
Known GenesCFHR1, CFHR4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv734030
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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