A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1973800



Internal ID17878372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:102262889..102263389hg38UCSC Ensembl
Innerchr13:102915239..102915739hg19UCSC Ensembl
Innerchr13:101713240..101713740hg18UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976149
Supporting Variants
SamplesHGDP01307
Known GenesFGF14
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)nssv1973800
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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