A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1987828



Internal ID17853046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:55541944..55546938hg38UCSC Ensembl
Innerchr14:56008662..56013656hg19UCSC Ensembl
Innerchr14:55078415..55083409hg18UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg384995
hg194995
hg184995
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976343
Supporting Variants
SamplesHGDP01029
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)nssv1987828
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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