A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1987598



Internal ID17867136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:56978063..56980245hg38UCSC Ensembl
Innerchr14:57444781..57446963hg19UCSC Ensembl
Innerchr14:56514534..56516716hg18UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg382183
hg192183
hg182183
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977471
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)nssv1987598
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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