A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548846



Internal ID16336255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196853900..196923192hg38UCSC Ensembl
Innerchr1:196823030..196892322hg19UCSC Ensembl
Innerchr1:195089653..195158945hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3869293
hg1969293
hg1869293
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv753n54
Supporting Variantsnssv734065
Samples
Known GenesCFHR4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548846
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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