A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1980407



Internal ID17729304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:32152483..32156515hg38UCSC Ensembl
Innerchr14:32621689..32625721hg19UCSC Ensembl
Innerchr14:31691440..31695472hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg384033
hg194033
hg184033
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974323
Supporting Variants
SamplesHGDP00456
Known GenesARHGAP5
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)nssv1980407
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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