A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1154797



Internal ID22085302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8209454..8225655hg38UCSC Ensembl
Outerchr12:8204911..8241232hg38UCSC Ensembl
Innerchr12:8362050..8378251hg19UCSC Ensembl
Outerchr12:8357507..8393828hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3836322
hg1936322
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv57n97
Supporting Variantsnssv4008369, nssv4008368
Samples
Known GenesFAM86FP, FAM90A1
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nsv1154797
Frequency
Sample Size131
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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