A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1981060



Internal ID17731320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:25358213..25358830hg38UCSC Ensembl
Innerchr14:25827419..25828036hg19UCSC Ensembl
Innerchr14:24897259..24897876hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38618
hg19618
hg18618
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974319
Supporting Variants
SamplesHGDP00456
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)nssv1981060
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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