A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1990882



Internal ID17784292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:67799292..67800092hg38UCSC Ensembl
Innerchr14:68266009..68266809hg19UCSC Ensembl
Innerchr14:67335762..67336562hg18UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg38801
hg19801
hg18801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983838
Supporting Variants
SamplesHGDP00665
Known GenesZFYVE26
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)nssv1990882
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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