A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1991792



Internal ID17519466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:75131665..75134845hg38UCSC Ensembl
Innerchr14:75598368..75601548hg19UCSC Ensembl
Innerchr14:74668121..74671301hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg383181
hg193181
hg183181
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977488
Supporting Variants
SamplesHGDP01284
Known GenesTMED10
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)nssv1991792
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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