A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1155616



Internal ID22086121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53735621..54033825hg38UCSC Ensembl
Outerchr19:53735011..54046913hg38UCSC Ensembl
Innerchr19:54238875..54537079hg19UCSC Ensembl
Outerchr19:54238265..54550167hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38311903
hg19311903
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4013704
Samples
Known GenesCACNG6, CACNG7, CACNG8, MIR1283-2, MIR371A, MIR371B, MIR372, MIR373, MIR516A1, MIR516A2, MIR516B1, MIR517C, MIR518A2, MIR519A1, MIR519A2, MIR520H, MIR521-1, MIR522, MIR527, MIR935, MYADM, NLRP12, PRKCG, VSTM1
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nsv1155616
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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