A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1987921



Internal ID17836589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:55763766..55767211hg38UCSC Ensembl
Innerchr14:56230484..56233929hg19UCSC Ensembl
Innerchr14:55300237..55303682hg18UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg383446
hg193446
hg183446
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983828
Supporting Variants
SamplesHGDP00998
Known GenesRPL13AP3
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)nssv1987921
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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