A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1911011



Internal ID17735528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7810216..7821299hg38UCSC Ensembl
Innerchr12:7962812..7973895hg19UCSC Ensembl
Innerchr12:7854079..7865162hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3811084
hg1911084
hg1811084
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983268
Supporting Variants
SamplesHGDP00456
Known GenesSLC2A14
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)nssv1911011
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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