A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1983055



Internal ID17783266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:36577232..36578463hg38UCSC Ensembl
Innerchr14:37046437..37047668hg19UCSC Ensembl
Innerchr14:36116188..36117419hg18UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg381232
hg191232
hg181232
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974328
Supporting Variants
SamplesHGDP00665
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)nssv1983055
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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