A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2065749



Internal ID17490157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:69357471..69358853hg38UCSC Ensembl
Innerchr16:69391374..69392756hg19UCSC Ensembl
Innerchr16:67948875..67950257hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg381383
hg191383
hg181383
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974826
Supporting Variants
SamplesHGDP00998
Known GenesTERF2
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)nssv2065749
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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