A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1961899



Internal ID17384166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:48326615..48328731hg38UCSC Ensembl
Innerchr13:48900751..48902867hg19UCSC Ensembl
Innerchr13:47798752..47800868hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg382117
hg192117
hg182117
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983585
Supporting Variants
SamplesHGDP00456
Known GenesRB1
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)nssv1961899
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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