A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1994398



Internal ID17861906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:81917241..81917850hg38UCSC Ensembl
Innerchr14:82383585..82384194hg19UCSC Ensembl
Innerchr14:81453338..81453947hg18UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38610
hg19610
hg18610
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974357
Supporting Variants
SamplesHGDP01284
Known Genes
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)nssv1994398
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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