A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2066070



Internal ID17457635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70021436..70030817hg38UCSC Ensembl
Innerchr16:70055339..70064720hg19UCSC Ensembl
Innerchr16:68612840..68622221hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg389382
hg199382
hg189382
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv974829
Supporting Variants
SamplesHGDP00778
Known GenesMIR1972-1, MIR1972-2, PDXDC2P
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2066070
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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