A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2053838



Internal ID17540418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28592283..28615463hg38UCSC Ensembl
Innerchr16:28603604..28626784hg19UCSC Ensembl
Innerchr16:28511105..28534285hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3823181
hg1923181
hg1823181
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984300
Supporting Variants
SamplesHGDP01307
Known GenesSULT1A1, SULT1A2
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)nssv2053838
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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