A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2047892



Internal ID17503606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:16283196..16299179hg38UCSC Ensembl
Innerchr16:16377053..16393036hg19UCSC Ensembl
Innerchr16:16284554..16300537hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3815984
hg1915984
hg1815984
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984274
Supporting Variants
SamplesHGDP01029
Known GenesNOMO3
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)nssv2047892
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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