A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548828



Internal ID16336237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196812480..196844140hg38UCSC Ensembl
Innerchr1:196781610..196813270hg19UCSC Ensembl
Innerchr1:195048233..195079893hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3831661
hg1931661
hg1831661
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv734045, nssv734046
Samples
Known GenesCFHR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548828
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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