A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1990394



Internal ID17785136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:72970717..72973969hg38UCSC Ensembl
Innerchr14:73437425..73440677hg19UCSC Ensembl
Innerchr14:72507178..72510430hg18UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg383253
hg193253
hg183253
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983842
Supporting Variants
SamplesHGDP00665
Known GenesZFYVE1
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)nssv1990394
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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