A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2054992



Internal ID17749100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28615463..28627421hg38UCSC Ensembl
Innerchr16:28626784..28638742hg19UCSC Ensembl
Innerchr16:28534285..28546243hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3811959
hg1911959
hg1811959
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv977945
Supporting Variants
SamplesHGDP00521
Known GenesSULT1A1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2054992
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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