A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4013704



Internal ID22075335
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 Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155616
Supporting Variants
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)nssv4013704
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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