A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2356046



Internal ID17785517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:43586528..43587739hg38UCSC Ensembl
Innerchr5:43586630..43587841hg19UCSC Ensembl
Innerchr5:43622387..43623598hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg381212
hg191212
hg181212
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980640
Supporting Variants
SamplesHGDP00665
Known GenesNNT-AS1
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)nssv2356046
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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