A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1964462



Internal ID17795885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:52167616..52194539hg38UCSC Ensembl
Innerchr13:52741751..52768674hg19UCSC Ensembl
Innerchr13:51639752..51666675hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3826924
hg1926924
hg1826924
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976116
Supporting Variants
SamplesHGDP00778
Known GenesMRPS31P5
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)nssv1964462
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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