A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2064432



Internal ID17817858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:68209560..68212347hg38UCSC Ensembl
Innerchr16:68243463..68246250hg19UCSC Ensembl
Innerchr16:66800964..66803751hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg382788
hg192788
hg182788
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977989
Supporting Variants
SamplesHGDP00927
Known GenesNFATC3
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)nssv2064432
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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