A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1945206



Internal ID17413937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:112408263..112408880hg38UCSC Ensembl
Innerchr12:112846067..112846684hg19UCSC Ensembl
Innerchr12:111330450..111331067hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38618
hg19618
hg18618
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983365
Supporting Variants
SamplesHGDP00542
Known GenesRPL6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1945206
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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