A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1993799



Internal ID17851686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:74902403..74903494hg38UCSC Ensembl
Innerchr14:75369106..75370197hg19UCSC Ensembl
Innerchr14:74438859..74439950hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381092
hg191092
hg181092
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977487
Supporting Variants
SamplesHGDP01029
Known GenesDLST
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)nssv1993799
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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