A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2053389



Internal ID17456671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28738879..28773873hg38UCSC Ensembl
Innerchr16:28750200..28785194hg19UCSC Ensembl
Innerchr16:28657701..28692695hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3834995
hg1934995
hg1834995
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984301
Supporting Variants
SamplesHGDP00778
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)nssv2053389
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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