A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2044028



Internal ID17784088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14399563..14409972hg38UCSC Ensembl
Innerchr16:14493420..14503829hg19UCSC Ensembl
Innerchr16:14400921..14411330hg18UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3810410
hg1910410
hg1810410
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977906
Supporting Variants
SamplesHGDP00665
Known Genes
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)nssv2044028
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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