A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1958108



Internal ID17532814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:27253748..27256597hg38UCSC Ensembl
Innerchr13:27827885..27830734hg19UCSC Ensembl
Innerchr13:26725885..26728734hg18UCSC Ensembl
Cytoband13q12.2
Allele length
AssemblyAllele length
hg382850
hg192850
hg182850
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976098
Supporting Variants
SamplesHGDP01307
Known GenesRPL21, RPL21P28, SNORA27, SNORD102
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)nssv1958108
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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