A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1965314



Internal ID17734240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:57138688..57174045hg38UCSC Ensembl
Innerchr13:57712822..57748179hg19UCSC Ensembl
Innerchr13:56610823..56646180hg18UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg3835358
hg1935358
hg1835358
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977248
Supporting Variants
SamplesHGDP00456
Known GenesPRR20A, PRR20B, PRR20C, PRR20D, PRR20E
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)nssv1965314
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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