A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1154958



Internal ID22085463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:241443491..241562382hg38UCSC Ensembl
Outerchr1:241433681..241566754hg38UCSC Ensembl
Innerchr1:241606791..241725682hg19UCSC Ensembl
Outerchr1:241596981..241730054hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38133074
hg19133074
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4007512
Samples
Known GenesFH, KMO
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nsv1154958
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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