A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2055455



Internal ID17766513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:30624648..30629163hg38UCSC Ensembl
Innerchr16:30635969..30640484hg19UCSC Ensembl
Innerchr16:30543470..30547985hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg384516
hg194516
hg184516
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978132
Supporting Variants
SamplesHGDP00542
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)nssv2055455
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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